Academic Appointments

Administrative Appointments

  • Co-Director, MS in Human Genetics and Genetic Counseling (2007 - Present)
  • Faculty Member, Stanford Center for Biomedical Ethics (SCBE) (2007 - Present)

Honors & Awards

  • President, National Society of Genetic Counselors (NSGC) (2004-2005)
  • Strategic Leader Award, National Society of Genetic Counselors (NSGC) (2009)

Professional Education

  • MS, Northwestern University, Genetic Counseling (1994)
  • Certificate, University of Chicago (MacLean), Clinical Medical Ethics (2001)

Research & Scholarship

Current Research and Scholarly Interests

While my primary role is to direct the MS in Human Genetics and Genetic Counseling program, my research focuses on the intersection between genetics and ethics, particularly around the translation of new genetic technologies (such as genome sequencing, non-invasive prenatal diagnosis and gene editing) into clinical practice. I am especially interested in patient decision making, consent and disclosure of genetic test results, and the interface between genetics and disability.


2017-18 Courses

Stanford Advisees

Graduate and Fellowship Programs


All Publications

  • 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling. Journal of genetic counseling Doyle, D. L., Awwad, R. I., Austin, J. C., Baty, B. J., Bergner, A. L., Brewster, S. J., Erby, L. A., Franklin, C. R., Greb, A. E., Grubs, R. E., Hooker, G. W., Noblin, S. J., Ormond, K. E., Palmer, C. G., Petty, E. M., Singletary, C. N., Thomas, M. J., Toriello, H., Walton, C. S., Uhlmann, W. R. 2016; 25 (5): 868-879


    The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

    View details for DOI 10.1007/s10897-016-9984-3

    View details for PubMedID 27333894

  • Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents AMERICAN JOURNAL OF HUMAN GENETICS Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., Levy, H. P., Ormond, K. E., Saal, H. M., Spinner, N. B., Wilfond, B. S., McInerney, J. D. 2015; 97 (1): 6-21
  • Teaching Genomic Counseling: Preparing the Genetic Counseling Workforce for the Genomic Era JOURNAL OF GENETIC COUNSELING Hooker, G. W., Ormond, K. E., Sweet, K., Biesecker, B. B. 2014; 23 (4): 445-451


    Genetic counselors have a long-standing history of working on the clinical forefront of implementing new genetic technology. Genomic sequencing is no exception. The rapid advancement of genomic sequencing technologies, including but not limited to next generation sequencing approaches, across all subspecialties of genetic counseling mandates attention to genetic counselor training at both the graduate and continuing education levels. The current era provides a tremendous opportunity for counselors to become actively involved in making genomics more accessible, engaging the population in decisions to undergo sequencing and effectively translating genomic information to promote health and well-being. In this commentary, we explore reasons why genomic sequencing warrants particular consideration and put forward strategies for training program curricula and continuing education programs to meet this need.

    View details for DOI 10.1007/s10897-014-9689-4

    View details for Web of Science ID 000339374400002

    View details for PubMedID 24504939

  • Clinical interpretation and implications of whole-genome sequencing. JAMA Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., Merker, J. D., Goldfeder, R. L., Enns, G. M., David, S. P., Pakdaman, N., Ormond, K. E., Caleshu, C., Kingham, K., Klein, T. E., Whirl-Carrillo, M., Sakamoto, K., Wheeler, M. T., Butte, A. J., Ford, J. M., Boxer, L., Ioannidis, J. P., Yeung, A. C., Altman, R. B., Assimes, T. L., Snyder, M., Ashley, E. A., Quertermous, T. 2014; 311 (10): 1035-1045


    Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication.To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies; to quantitate inherited disease risk and pharmacogenomic findings in WGS data and resources required for their discovery and interpretation; and to evaluate clinical action prompted by WGS findings.An exploratory study of 12 adult participants recruited at Stanford University Medical Center who underwent WGS between November 2011 and March 2012. A multidisciplinary team reviewed all potentially reportable genetic findings. Five physicians proposed initial clinical follow-up based on the genetic findings.Genome coverage and sequencing platform concordance in different categories of genetic disease risk, person-hours spent curating candidate disease-risk variants, interpretation agreement between trained curators and disease genetics databases, burden of inherited disease risk and pharmacogenomic findings, and burden and interrater agreement of proposed clinical follow-up.Depending on sequencing platform, 10% to 19% of inherited disease genes were not covered to accepted standards for single nucleotide variant discovery. Genotype concordance was high for previously described single nucleotide genetic variants (99%-100%) but low for small insertion/deletion variants (53%-59%). Curation of 90 to 127 genetic variants in each participant required a median of 54 minutes (range, 5-223 minutes) per genetic variant, resulted in moderate classification agreement between professionals (Gross κ, 0.52; 95% CI, 0.40-0.64), and reclassified 69% of genetic variants cataloged as disease causing in mutation databases to variants of uncertain or lesser significance. Two to 6 personal disease-risk findings were discovered in each participant, including 1 frameshift deletion in the BRCA1 gene implicated in hereditary breast and ovarian cancer. Physician review of sequencing findings prompted consideration of a median of 1 to 3 initial diagnostic tests and referrals per participant, with fair interrater agreement about the suitability of WGS findings for clinical follow-up (Fleiss κ, 0.24; P < 001).In this exploratory study of 12 volunteer adults, the use of WGS was associated with incomplete coverage of inherited disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings. In certain cases, WGS will identify clinically actionable genetic variants warranting early medical intervention. These issues should be considered when determining the role of WGS in clinical medicine.

    View details for DOI 10.1001/jama.2014.1717

    View details for PubMedID 24618965

    View details for PubMedCentralID PMC4119063

  • Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues PERSONALIZED MEDICINE Ormond, K. E., Cho, M. K. 2014; 11 (2): 211-222

    View details for DOI 10.2217/pme.13.104

    View details for Web of Science ID 000337311700014

  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing GENETICS IN MEDICINE Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O'Daniel, J. M., Ormond, K. E., Rehm, H. L., Watson, M. S., Williams, M. S., Biesecker, L. G. 2013; 15 (7): 565-574


    In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.

    View details for DOI 10.1038/gim.2013.73

    View details for Web of Science ID 000321328500012

    View details for PubMedID 23788249

    View details for PubMedCentralID PMC3727274

  • Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors JOURNAL OF GENETIC COUNSELING Devers, P. L., Cronister, A., Ormond, K. E., Facio, F., Brasington, C. K., Flodman, P. 2013; 22 (3): 291-295


    The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

    View details for DOI 10.1007/s10897-012-9564-0

    View details for Web of Science ID 000318690300001

    View details for PubMedID 23334531

  • Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake PRENATAL DIAGNOSIS Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., Ormond, K. E. 2011; 31 (13): 1292-1299


    To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing.Written questionnaires were administered to women in their third trimester.One hundred fourteen women returned the questionnaire (80.9% response rate). Of these, 71.9% reported interest in NIPD, 22.7% were ambivalent, and 5.4% were uninterested. Safety of the fetus was the single most important factor in 75% of women's decisions. Factors associated with increased interest in NIPD included: older age (p = 0.036), higher education (p = 0.013), Caucasian or Asian ethnicity (p = 0.011), and higher likelihood to terminate an affected pregnancy (p = 0.002). Nearly 20% of women reported that they would do whatever their doctor recommended regarding NIPD, and 94.4% of women wished to meet with a genetic counselor at some point to discuss NIPD.The majority of pregnant women report hypothetical interest in NIPD, primarily because of increased safety for the fetus, although a significant minority are uninterested or ambivalent. Discussions with healthcare providers regarding NIPD, and their recommendations, are likely to be an important factor in women's decisions about this testing. As such, adequate discussion of the implications of prenatal diagnostic testing will be critical.

    View details for DOI 10.1002/pd.2888

    View details for Web of Science ID 000298566900013

    View details for PubMedID 22028097

  • Challenges in the clinical application of whole-genome sequencing LANCET Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., Ashley, E. A., Greely, H. T. 2010; 375 (9727): 1749-1751
  • Clinical assessment incorporating a personal genome LANCET Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., Pushkarev, D., Neff, N. F., Hudgins, L., Gong, L., Hodges, L. M., Berlin, D. S., Thorn, C. F., Sangkuhl, K., Hebert, J. M., Woon, M., Sagreiya, H., Whaley, R., Knowles, J. W., Chou, M. F., Thakuria, J. V., Rosenbaum, A. M., Zaranek, A. W., Church, G. M., Greely, H. T., Quake, S. R., Altman, R. B. 2010; 375 (9725): 1525-1535


    The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context.We assessed a patient with a family history of vascular disease and early sudden death. Clinical assessment included analysis of this patient's full genome sequence, risk prediction for coronary artery disease, screening for causes of sudden cardiac death, and genetic counselling. Genetic analysis included the development of novel methods for the integration of whole genome and clinical risk. Disease and risk analysis focused on prediction of genetic risk of variants associated with mendelian disease, recognised drug responses, and pathogenicity for novel variants. We queried disease-specific mutation databases and pharmacogenomics databases to identify genes and mutations with known associations with disease and drug response. We estimated post-test probabilities of disease by applying likelihood ratios derived from integration of multiple common variants to age-appropriate and sex-appropriate pre-test probabilities. We also accounted for gene-environment interactions and conditionally dependent risks.Analysis of 2.6 million single nucleotide polymorphisms and 752 copy number variations showed increased genetic risk for myocardial infarction, type 2 diabetes, and some cancers. We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3. A variant in LPA was consistent with a family history of coronary artery disease. The patient had a heterozygous null mutation in CYP2C19 suggesting probable clopidogrel resistance, several variants associated with a positive response to lipid-lowering therapy, and variants in CYP4F2 and VKORC1 that suggest he might have a low initial dosing requirement for warfarin. Many variants of uncertain importance were reported.Although challenges remain, our results suggest that whole-genome sequencing can yield useful and clinically relevant information for individual patients.National Institute of General Medical Sciences; National Heart, Lung And Blood Institute; National Human Genome Research Institute; Howard Hughes Medical Institute; National Library of Medicine, Lucile Packard Foundation for Children's Health; Hewlett Packard Foundation; Breetwor Family Foundation.

    View details for Web of Science ID 000277655100025

    View details for PubMedID 20435227

    View details for PubMedCentralID PMC2937184

  • CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O'Daniel, J. M., Ormond, K. E., Rehm, H. L., Watson, M. S., Williams, M. S., Biesecker, L. G. 2017; 19 (5): 606-?

    View details for DOI 10.1038/gim.2017.18

    View details for PubMedID 28492529

  • Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics GENETICS IN MEDICINE Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., McKelvey, K. D., Ormond, K. E., Richards, C. S., Vlangos, C. N., Watson, M., Martin, C. L., Miller, D. T. 2017; 19 (2): 249-255


    Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medical Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks for selected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initial 15 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.Genet Med 19 2, 249-255.

    View details for DOI 10.1038/gim.2016.190

    View details for Web of Science ID 000393534200016

    View details for PubMedID 27854360

  • Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy. Open heart Luiten, R. C., Ormond, K., Post, L., Asif, I. M., Wheeler, M. T., Caleshu, C. 2016; 3 (2)


    We examined the extent and nature of the psychological difficulty experienced by athletic adults with hypertrophic cardiomyopathy (HCM), correlates of that difficulty and coping mechanisms.A survey assessed athletic history and psychological impact of exercise restrictions. LASSO penalised linear regression identified factors associated with psychological difficulty. Semistructured interviews provided deeper insight into the nature and origins of psychological difficulty.54 individuals (33% female, mean age 55.9) completed the survey. The majority were recreational athletes at the time of restriction (67%). There was a drop in athleticism after diagnosis, including time spent exercising (p=0.04) and identification as an athlete (p=0.0005). Most respondents (54%) found it stressful and/or difficult to adjust to exercise restrictions. Greater psychological morbidity was associated with history of elite or competitive athletics, athletic identity and decrease in time spent exercising. 16 individuals (44% female, mean age 52.4) were interviewed. Long-term effects included weight gain and uncertainty about exercising safely. The role of exercise in interviewees' lives contracted significantly after restriction, from multiple functions (eg, social, stress relief, fitness) to solely health maintenance. Interviewees reported a unique form of social support: having family and friends participate with them in lower intensity exercise. Lack of understanding from family or friends and avoiding exercise completely were detrimental to coping.Athletic adults with HCM experience multifaceted, lasting difficulty adjusting to exercise recommendations. These data can guide clinicians in identifying patients at highest risk for distress and in helping to bolster coping and adaptation.

    View details for PubMedID 27843566

    View details for PubMedCentralID PMC5073663

  • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening EUROPEAN JOURNAL OF HUMAN GENETICS Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjaerg, L., van El, C. G., Cornel, M. C. 2015; 23 (11): 1438-1450

    View details for DOI 10.1038/ejhg.2015.57

    View details for Web of Science ID 000362916200005

    View details for PubMedID 25782669

  • Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes MAYO CLINIC PROCEEDINGS Lindor, N. M., Schahl, K. A., Johnson, K. J., Hunt, K. S., Mensink, K. A., Wieben, E. D., Klee, E., Black, J. L., Highsmith, W. E., Thibodeau, S. N., Ferber, M. J., Aypar, U., Ji, Y., Graham, R. P., Fiksdal, A. S., Sarangi, V., Ormond, K. E., Riegert-Johnson, D. L., McAllister, T. M., Farrugia, G., McCormick, J. B. 2015; 90 (10): 1327-1337

    View details for DOI 10.1016/j.mayocp.2015.05.021

    View details for Web of Science ID 000362450100008

    View details for PubMedID 26434960

  • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. European journal of human genetics Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G., Cornel, M. C. 2015

    View details for DOI 10.1038/ejhg.2015.56

    View details for PubMedID 25828867

  • Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing. Journal of genetic counseling Kellogg, G., Slattery, L., Hudgins, L., Ormond, K. 2014; 23 (5): 805-813


    Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on their families and other families with children who have Down syndrome. Seventy-three self-reported mothers of children with Down syndrome responded to an anonymous online survey emailed to, and posted on, message boards of various Down syndrome support groups and networks. Data analysis included chi-square tests and thematic analysis. Fifty-nine percent of respondents indicated they would use NIPT in the future; respondents who had not used prenatal testing in the past were significantly less likely to report interest in using NIPT in the future than those who had prenatal testing previously (p < .001). Many respondents felt NIPT could lead to increased terminations (88 %), increased social stigma (57 %), and decreased availability of services for individuals with Down syndrome (64 %). However, only 16 % believed availability of new noninvasive tests would be the most important factor in determining the number of pregnancies with Down syndrome terminated in the future. Additionally, 48 % believed health care providers give biased or incorrect information about Down syndrome at the time of diagnosis, and 24 % felt this incorrect information leads to terminations of pregnancies affected with Down syndrome. Results suggest although mothers of children with Down syndrome believe new noninvasive testing will lead to an increase in termination of pregnancies with Down syndrome, they do not think it is the MOST important factor. They also highlight the need to provide a diagnosis of Down syndrome in a balanced and objective manner.

    View details for DOI 10.1007/s10897-014-9694-7

    View details for PubMedID 24481673

  • Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives FAMILIAL CANCER Dilzell, K., Kingham, K., Ormond, K., Ladabaum, U. 2014; 13 (3): 381-389


    Facilitating family communication about Lynch syndrome is a public health priority since following appropriate screening guidelines can decrease morbidity and mortality. The aims of this study were to (1) ascertain what educational materials individuals with Lynch syndrome provide to at-risk relatives, and (2) identify relationships between receiving educational materials and pursuing clinical follow-up. Seventy-four participants, recruited from the Stanford Cancer Institute and a support group, completed an online questionnaire; 50 were first to be diagnosed with a Lynch syndrome mutation in their family (probands) and 24 were first or second-degree relatives. Probands reported informing 88 % (184/209) of first-degree relatives and 64 % (161/252) of second-degree relatives of the mutation. Probands shared their genetic counseling note with 53 % of relatives; other resources, including family letters, personal notes, testing laboratory information, online resources, support group information, and genetics referrals, were given to 33 % or fewer relatives. Probands reported that female relatives (p = 0.028) and first-degree relatives (p ≤ 0.001) were more likely to be given materials. Relatives who received an educational material were more likely to follow up with a clinician (74 vs 22 %, p ≤0.001) and attend a genetic counseling appointment (43 vs 16 %, p ≤ 0.001). First-degree relatives who received an educational material were more likely to have undergone genetic testing (51 vs 19 %, p = 0.012) and cancer screening (69 vs 29 %, p = 0.001). Facilitating information transmission in families with Lynch syndrome using educational materials may play a role in informed clinical decision-making and cascade screening of at-risk relatives.

    View details for DOI 10.1007/s10689-014-9720-9

    View details for Web of Science ID 000342176000007

    View details for PubMedID 24770865

  • Views of genetics health professionals on the return of genomic results. Journal of genetic counseling Grove, M. E., Wolpert, M. N., Cho, M. K., Lee, S. S., Ormond, K. E. 2014; 23 (4): 531-538


    As exome and whole genome sequencing become clinically available, the potential to receive a large number of clinically relevant but incidental results is a significant challenge in the provision of genomic counseling. We conducted three focus groups of a total of 35 individuals who were members of ASHG and/or NSGC, assessing views towards the return of genomic results. Participants stressed that patient autonomy was primary. There was consensus that a mechanism to return results to the healthcare provider, rather than patient, and to streamline integration into the electronic health record would ensure these results had the maximal impact on patient management. All three focus groups agreed that pharmacogenomic results were reasonable to return and that they were not felt to be stigmatizing. With regard to the return of medically relevant results, there was much debate. Participants had difficulty in consistently assigning specific diseases to 'bins' that were considered obligatory versus optional for disclosure. Consensus was reached regarding the importance of informed consent and pretest counseling visits to clarify what the return of results process would entail. Evidence based professional guidelines should continue to be developed and regularly revised to assist in consistently and appropriately providing genomic results to patients.

    View details for DOI 10.1007/s10897-013-9611-5

    View details for PubMedID 23728783

  • Genetic testing of children for predisposition to mood disorders: anticipating the clinical issues. Journal of genetic counseling Erickson, J. A., Kuzmich, L., Ormond, K. E., Gordon, E., Christman, M. F., Cho, M. K., Levinson, D. F. 2014; 23 (4): 566-577


    Large-scale sequencing information may provide a basis for genetic tests for predisposition to common disorders. In this study, participants in the Coriell Personalized Medicine Collaborative (N = 53) with a personal and/or family history of Major Depressive Disorder or Bipolar Disorder were interviewed based on the Health Belief Model around hypothetical intention to test one's children for probability of developing a mood disorder. Most participants (87 %) were interested in a hypothetical test for children that had high ("90 %") positive predictive value, while 51 % of participants remained interested in a modestly predictive test ("20 %"). Interest was driven by beliefs about effects of test results on parenting behaviors and on discrimination. Most participants favored testing before adolescence (64 %), and were reluctant to share results with asymptomatic children before adulthood. Participants anticipated both positive and negative effects of testing on parental treatment and on children's self-esteem. Further investigation will determine whether these findings will generalize to other complex disorders for which early intervention is possible but not clearly demonstrated to improve outcomes. More information is also needed about the effects of childhood genetic testing and sharing of results on parent-child relationships, and about the role of the child in the decision-making process.

    View details for DOI 10.1007/s10897-014-9710-y

    View details for PubMedID 24651919

  • Clinical interpretation and implications of whole-genome sequencing. JAMA : the journal of the American Medical Association Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., Merker, J. D., Goldfeder, R. L., Enns, G. M., David, S. P., Pakdaman, N., Ormond, K. E., Caleshu, C., Kingham, K., Klein, T. E., Whirl-Carrillo, M., Sakamoto, K., Wheeler, M. T., Butte, A. J., Ford, J. M., Boxer, L., Ioannidis, J. P., Yeung, A. C., Altman, R. B., Assimes, T. L., Snyder, M., Ashley, E. A., Quertermous, T. 2014; 311 (10): 1035-1045

    View details for DOI 10.1001/jama.2014.1717

    View details for PubMedID 24618965

  • Path-scan: a reporting tool for identifying clinically actionable variants. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing Daneshjou, R., Zappala, Z., Kukurba, K., Boyle, S. M., Ormond, K. E., Klein, T. E., Snyder, M., Bustamante, C. D., Altman, R. B., Montgomery, S. B. 2014; 19: 229-240


    The American College of Medical Genetics and Genomics (ACMG) recently released guidelines regarding the reporting of incidental findings in sequencing data. Given the availability of Direct to Consumer (DTC) genetic testing and the falling cost of whole exome and genome sequencing, individuals will increasingly have the opportunity to analyze their own genomic data. We have developed a web-based tool, PATH-SCAN, which annotates individual genomes and exomes for ClinVar designated pathogenic variants found within the genes from the ACMG guidelines. Because mutations in these genes predispose individuals to conditions with actionable outcomes, our tool will allow individuals or researchers to identify potential risk variants in order to consult physicians or genetic counselors for further evaluation. Moreover, our tool allows individuals to anonymously submit their pathogenic burden, so that we can crowd source the collection of quantitative information regarding the frequency of these variants. We tested our tool on 1092 publicly available genomes from the 1000 Genomes project, 163 genomes from the Personal Genome Project, and 15 genomes from a clinical genome sequencing research project. Excluding the most commonly seen variant in 1000 Genomes, about 20% of all genomes analyzed had a ClinVar designated pathogenic variant that required further evaluation.

    View details for PubMedID 24297550

    View details for PubMedCentralID PMC4008882

  • The Views of Pakistani Doctors Regarding Genetic Counseling Services - Is there a Future? JOURNAL OF GENETIC COUNSELING Ashfaq, M., Amanullah, F., Ashfaq, A., Ormond, K. E. 2013; 22 (6): 721-732


    Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.

    View details for DOI 10.1007/s10897-013-9578-2

    View details for Web of Science ID 000328080800005

    View details for PubMedID 23536257

  • From genetic counseling to "genomic counseling". Molecular genetics & genomic medicine Ormond, K. E. 2013; 1 (4): 189-193

    View details for DOI 10.1002/mgg3.45

    View details for PubMedID 24498615

  • Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing. Prenatal diagnosis Allyse, M. A., Sayres, L. C., Havard, M., King, J. S., Greely, H. T., Hudgins, L., Taylor, J., Norton, M. E., Cho, M. K., Magnus, D., Ormond, K. E. 2013; 33 (7): 656-661


    OBJECTIVE: The goal of this study is to provide an ethical framework for clinicians and companies providing noninvasive prenatal testing using cell-free fetal DNA or whole fetal cells. METHOD: In collaboration with a National Institutes of Health-supported research ethics consultation committee together with feedback from an interdisciplinary group of clinicians, members of industry, legal experts, and genetic counselors, we developed a set of best practices for the provision of noninvasive prenatal genetic testing. RESULTS: Principal recommendations include the amendment of current informed consent procedures to include attention to the noninvasive nature of new testing and the potential for a broader range of results earlier in the pregnancy. We strongly recommend that tests should only be provided through licensed medical providers and not directly to consumers. CONCLUSION: Prenatal tests, including new methods using cell-free fetal DNA, are not currently regulated by government agencies, and limited professional guidance is available. In the absence of regulation, companies and clinicians should cooperate to adopt responsible best ethical practices in the provision of these tests. © 2013 John Wiley & Sons, Ltd.

    View details for DOI 10.1002/pd.4144

    View details for PubMedID 23613322

  • Personal genome testing in medical education: student experiences with genotyping in the classroom GENOME MEDICINE Vernez, S. L., Salari, K., Ormond, K. E., Lee, S. S. 2013; 5

    View details for DOI 10.1186/gm428

    View details for Web of Science ID 000319861100001

  • Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PloS one Salari, K., Karczewski, K. J., Hudgins, L., Ormond, K. E. 2013; 8 (7)


    An emerging debate in academic medical centers is not about the need for providing trainees with fundamental education on genomics, but rather the most effective educational models that should be deployed. At Stanford School of Medicine, a novel hands-on genomics course was developed in 2010 that provided students the option to undergo personal genome testing as part of the course curriculum. We hypothesized that use of personal genome testing in the classroom would enhance the learning experience of students. No data currently exist on how such methods impact student learning; thus, we surveyed students before and after the course to determine its impact. We analyzed responses using paired statistics from the 31 medical and graduate students who completed both pre-course and post-course surveys. Participants were stratified by those who did (N = 23) or did not (N = 8) undergo personal genome testing. In reflecting on the experience, 83% of students who underwent testing stated that they were pleased with their decision compared to 12.5% of students who decided against testing (P = 0.00058). Seventy percent of those who underwent personal genome testing self-reported a better understanding of human genetics on the basis of having undergone testing. Further, students who underwent personal genome testing demonstrated an average 31% increase in pre- to post-course scores on knowledge questions (P = 3.5×10(-6)); this was significantly higher (P = 0.003) than students who did not undergo testing, who showed a non-significant improvement. Undergoing personal genome testing and using personal genotype data in the classroom enhanced students' self-reported and assessed knowledge of genomics, and did not appear to cause significant anxiety. At least for self-selected students, the incorporation of personal genome testing can be an effective educational tool to teach important concepts of clinical genomic testing.

    View details for DOI 10.1371/journal.pone.0068853

    View details for PubMedID 23935898

  • Attitudes towards Social Networking and Sharing Behaviors among Consumers of Direct-to-Consumer Personal Genomics. Journal of personalized medicine Lee, S. S., Vernez, S. L., Ormond, K. E., Granovetter, M. 2013; 3 (4): 275-287


    Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors.Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results.80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future.Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities.

    View details for DOI 10.3390/jpm3040275

    View details for PubMedID 25562728

    View details for PubMedCentralID PMC4251386

  • Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PloS one Salari, K., Karczewski, K. J., Hudgins, L., Ormond, K. E. 2013; 8 (7)

    View details for DOI 10.1371/journal.pone.0068853

    View details for PubMedID 23935898

  • Personal genome testing in medical education: student experiences with genotyping in the classroom. Genome medicine Vernez, S. L., Salari, K., Ormond, K. E., Lee, S. S. 2013; 5 (3): 24-?


    Direct-to-consumer (DTC) personal genotyping services are beginning to be adopted by educational institutions as pedagogical tools for learning about human genetics. However, there is little known about student reactions to such testing. This study investigated student experiences and attitudes towards DTC personal genome testing.Individual interviews were conducted with students who chose to undergo personal genotyping in the context of an elective genetics course. Ten medical and graduate students were interviewed before genotyping occurred, and at 2 weeks and 6 months after receiving their genotype results. Qualitative analysis of interview transcripts assessed the expectations and experiences of students who underwent personal genotyping, how they interpreted and applied their results; how the testing affected the quality of their learning during the course, and what were their perceived needs for support.Students stated that personal genotyping enhanced their engagement with the course content. Although students expressed skepticism over the clinical utility of some test results, they expressed significant enthusiasm immediately after receiving their personal genetic analysis, and were particularly interested in results such as drug response and carrier testing. However, few reported making behavioral changes or following up on specific results through a healthcare provider. Students did not report utilizing genetic counseling, despite feeling strongly that the 'general public' would need these services. In follow-up interviews, students exhibited poor recall on details of the consent and biobanking agreements, but expressed little regret over their decision to undergo genotyping. Students reported mining their raw genetic data, and conveyed a need for further consultation support in their exploration of genetic variants.Personal genotyping may improve students' self-reported motivation and engagement with course material. However, consultative support that is different from traditional genetic counseling will be necessary to support students. Before incorporating personal genotyping into coursework, institutions should lead multi-disciplinary discussion to anticipate issues and incorporate teaching mechanisms that engage the ethical, legal, and social implications of personal genotyping, including addressing those found in this study, to go beyond what is offered by commercial providers.

    View details for DOI 10.1186/gm428

    View details for PubMedID 23510111

  • Genetic Counseling for Prenatal Testing: Where is the Discussion About Disability? JOURNAL OF GENETIC COUNSELING Farrelly, E., Cho, M. K., Erby, L., Roter, D., Stenzel, A., Ormond, K. 2012; 21 (6): 814-824


    There are little data revealing how genetic counselors talk about disability in the prenatal setting. We performed a qualitative analysis of 93 existing transcripts from simulated patient (SP) genetic counseling sessions conducted in 2003–4 through the Genetic Counseling Video Project. We found that most genetic counselors (95%) focused on the physical aspects of disability while fewer (27%) discussed the social aspects. In addition, few genetic counselors (38%) asked patients about personal experiences with disability. When discussing options available if a pregnancy were diagnosed with a disability, most genetic counselors mentioned termination (86%) while fewer mentioned the continuation of the pregnancy (37%) or adoption (13%). Only half of the genetic counselors asked the SP if she had thought about how she might use the results of prenatal screening. To better facilitate informed decision-making that is consistent with patient values, we recommend genetic counselors engage prenatal patients in a deeper discussion about their ability and willingness to parent a child with a disability.

    View details for DOI 10.1007/s10897-012-9484-z

    View details for Web of Science ID 000311509200012

    View details for PubMedID 22898882

  • Customers or research participants?: Guidance for research practices in commercialization of personal genomics GENETICS IN MEDICINE Tobin, S. L., Cho, M. K., Lee, S. S., Magnus, D. C., Allyse, M., Ormond, K. E., Garrison, N. A. 2012; 14 (10): 833-835

    View details for DOI 10.1038/gim.2012.64

    View details for Web of Science ID 000309645900001

    View details for PubMedID 22699154

  • Genetic Counseling for Prenatal Testing: Where is the Discussion About Disability? Journal of genetic counseling 2012


    There are little data revealing how genetic counselors talk about disability in the prenatal setting. We performed a qualitative analysis of 93 existing transcripts from simulated patient (SP) genetic counseling sessions conducted in 2003-4 through the Genetic Counseling Video Project. We found that most genetic counselors (95%) focused on the physical aspects of disability while fewer (27%) discussed the social aspects. In addition, few genetic counselors (38%) asked patients about personal experiences with disability. When discussing options available if a pregnancy were diagnosed with a disability, most genetic counselors mentioned termination (86%) while fewer mentioned the continuation of the pregnancy (37%) or adoption (13%). Only half of the genetic counselors asked the SP if she had thought about how she might use the results of prenatal screening. To better facilitate informed decision-making that is consistent with patient values, we recommend genetic counselors engage prenatal patients in a deeper discussion about their ability and willingness to parent a child with a disability.

    View details for DOI 10.1007/s10897-012-9484-z

    View details for PubMedID 22297411

  • Concurrent Use of Cultural Health Practices and Western Medicine During Pregnancy: Exploring the Mexican Experience in the United States JOURNAL OF GENETIC COUNSELING Barragan, D. I., Ormond, K. E., Strecker, M. N., Weil, J. 2011; 20 (6): 609-624


    The relationship between concurrent use of cultural health practices and Western medicine during pregnancy by women of Mexican origin is relatively unstudied. The aim of this study was to explore how cultural health practices are balanced with the use of Western medicine during pregnancy by women of Mexican origin across differing acculturation levels. A convenience sample of 15 women of self-identified Mexican origin between the ages of 18-65 participated either in a telephone interview or one of two small group interviews; each was conducted in participants' preferred language. Transcripts were analyzed using thematic coding, and acculturation level was assessed using a validated measure. The results indicate that (1) Women of all acculturation levels valued Western medical care in pregnancy and had a good understanding of common public health messages; (2) Perceived benefits of and reasons for engaging in cultural health practices varied by acculturation level; and (3) Motivation for sharing cultural health practices with children also varied by acculturation level. Consequently, acculturation level is an important factor to consider in culturally competent genetic counseling, including eliciting cultural information relevant to counseling and decision-making and identifying barriers to effective, culturally sensitive communication.

    View details for DOI 10.1007/s10897-011-9387-4

    View details for Web of Science ID 000297370400007

    View details for PubMedID 21769570

  • Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records BMC HEALTH SERVICES RESEARCH Darcy, D. C., Lewis, E. T., Ormond, K. E., Clark, D. J., Trafton, J. A. 2011; 11


    Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results.As health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use.This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

    View details for DOI 10.1186/1472-6963-11-294

    View details for Web of Science ID 000297667600001

    View details for PubMedID 22047175

  • Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence PLOS GENETICS Dewey, F. E., Chen, R., Cordero, S. P., Ormond, K. E., Caleshu, C., Karczewski, K. J., Whirl-Carrillo, M., Wheeler, M. T., Dudley, J. T., Byrnes, J. K., Cornejo, O. E., Knowles, J. W., Woon, M., Sangkuhl, K., Gong, L., Thorn, C. F., Hebert, J. M., Capriotti, E., David, S. P., Pavlovic, A., West, A., Thakuria, J. V., Ball, M. P., Zaranek, A. W., Rehm, H. L., Church, G. M., West, J. S., Bustamante, C. D., Snyder, M., Altman, R. B., Klein, T. E., Butte, A. J., Ashley, E. A. 2011; 7 (9)


    Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family with history of familial thrombophilia. We demonstrate that the use of the major allele reference sequence results in improved genotype accuracy for disease-associated variant loci. We infer recombination sites to the lowest median resolution demonstrated to date (< 1,000 base pairs). We use family inheritance state analysis to control sequencing error and inform family-wide haplotype phasing, allowing quantification of genome-wide compound heterozygosity. We develop a sequence-based methodology for Human Leukocyte Antigen typing that contributes to disease risk prediction. Finally, we advance methods for analysis of disease and pharmacogenomic risk across the coding and non-coding genome that incorporate phased variant data. We show these methods are capable of identifying multigenic risk for inherited thrombophilia and informing the appropriate pharmacological therapy. These ethnicity-specific, family-based approaches to interpretation of genetic variation are emblematic of the next generation of genetic risk assessment using whole-genome sequencing.

    View details for DOI 10.1371/journal.pgen.1002280

    View details for Web of Science ID 000295419100031

    View details for PubMedID 21935354

    View details for PubMedCentralID PMC3174201

  • Medical and graduate students' attitudes toward personal genomics GENETICS IN MEDICINE Ormond, K. E., Hudgins, L., Ladd, J. M., Magnus, D. M., Greely, H. T., Cho, M. K. 2011; 13 (5): 400-408


    Medical schools are being approached by direct-to-consumer genotyping companies about genotyping faculty or trainees as a method to "teach" them about the potential implications of genotyping. In thinking about the future incorporation of genotyping into a graduate level genetics course, the purpose of this study was 2-fold: first, to assess knowledge, attitudes, and beliefs of students toward personal genomics as it related to themselves as both as customers and future physicians and as it related to consumers at large, and second, to determine the impact of the course (as taught without genotyping) on knowledge, attitudes, and beliefs.We surveyed first-year medical students and graduate students before and after a core genetics course.After the course, students were less likely to believe that genotyping information would be useful to physicians, patients, or consumers; genotyping would provide information to improve their own personal health; or personal genomic testing services are diagnostic of medical conditions. They were more likely to answer knowledge questions accurately after the course but still had difficulty with clinical interpretation. Despite these changes, a slight majority of students were, and remained, interested in undergoing genotyping themselves. Of note, the number who believed genotyping "would help them understand genetic concepts better than someone else's data" decreased. General curiosity was the most commonly chosen reason for interest in undergoing genotyping, and approximately 50% of respondents expressed concern about confidentiality of results.In conclusion, even without the genotyping process, an educational program about genotyping increased knowledge, particularly about the clinical limitations of genotyping, but student interest in genotyping did not significantly change. Institutions thinking about offering genotyping to their students as part of a learning experience should consider the pros and cons of doing so.

    View details for DOI 10.1097/GIM.0b013e31820562f6

    View details for Web of Science ID 000290435700005

    View details for PubMedID 21270640

  • Health insurance coverage of genetic services in Illinois GENETICS IN MEDICINE Latchaw, M., Ormond, K., Smith, M., Richardson, J., Wicklund, C. 2010; 12 (8): 525-531


    As a first step toward the improvement of health insurance coverage and reimbursement for genetic services, our study characterizes the current state of health insurance coverage for genetic services in Illinois.We used a combination of surveys, interviews, and policy review to obtain data from the largest health insurers in Illinois regarding their coverage of genetic services.The health insurance companies in this study vary widely on coverage of and attitudes toward genetic services. Policies were most consistent across insurance companies when there was widespread professional agreement regarding genetic testing, as in the case of cystic fibrosis carrier screening. Other policies, including criteria for BRCA testing, were extremely variable across insurers and did not always reflect accurate medical information. We also found that health insurance companies in Illinois seem unlikely to reimburse for services billed directly by genetic counselors.These findings suggest several strategies for improving billing, reimbursement, and insurance coverage of genetic services, including (1) legislative amendments mandating coverage of genetic counselors' services; (2) creating consistent criteria for genetic testing; (3) increasing genetic professionals' involvement in the development of coverage policies; and (4) educating insurance companies about the value of genetic services.

    View details for DOI 10.1097/GIM.0b013e3181e3916d

    View details for Web of Science ID 000281111400009

    View details for PubMedID 20535020

  • First trimester screening versus diagnostic testing; how important is prenatal counseling in the decision-making process? 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Wong, A., Blumenfeld, Y., Lyell, D., Ormond, K., Chueh, J. MOSBY-ELSEVIER. 2009: S253–S253
  • Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening PATIENT EDUCATION AND COUNSELING Ormond, K. E., Banuvar, S., Daly, A., Iris, M., Minogue, J., Elias, S. 2009; 75 (2): 244-250


    With the increasing carrier screening options being offered to pregnant women, it is critical to consider what information women want in an informed consent process, and how they make decisions regarding screening.We surveyed 201 pregnant women.Subjects prefer "to have as much information as possible" (84%), and valued their physician's recommendations (82%) regarding screening. After reviewing two hypothetical scenarios, 71% of participants preferred more information about genetic carrier screening; however, some participants expressed concern that too much information can also lead to anxiety. When specifically asked about components of a potential informed consent process, the highest preferences were to include: the chance of having a child with the disorder (97%), the options for carriers (93%), the value and purpose of testing (91%), and the prognosis if a child has the disease (94%); preference for "symptoms" information differed based on scenario preference (p<0.001).This study is the first to document variation in patients' views regarding the information desired as part of the informed consent process.Providers should consider ways to ascertain their patients' preferred informational style, and how to provide information in the amount and style that patients find useful in making decisions.

    View details for DOI 10.1016/j.pec.2008.09.020

    View details for Web of Science ID 000265471500016

    View details for PubMedID 19013744

  • Diversity in genetic counseling: past, present and future. Journal of genetic counseling Warren, N. S., Ormond, K. E. 2009; 18 (2): 197-199

    View details for DOI 10.1007/s10897-008-9208-6

    View details for PubMedID 19241151

  • Assessing the Understanding of Biobank Participants AMERICAN JOURNAL OF MEDICAL GENETICS PART A Ormond, K. E., Cirino, A. L., Helenowski, I. B., Chisholm, R. L., Wolf, W. A. 2009; 149A (2): 188-198


    Biobanks have been developed as a tool to better understand the genetic basis of disease by linking DNA samples to corresponding medical information. The broad scope of such projects presents a challenge to informed consent and participant understanding. To address this, 200 telephone interviews were conducted with participants in the NUgene Project, Northwestern University's biobank. Interviews included a modified version of the "quality of informed consent measure" (QuIC) and semi-structured questions which were analyzed thematically for 109 of the interviews. The QuIC, originally applied to cancer clinical trials, objectively assessed some of the components of informed consent for a biobank, and interview questions provided rich data to assist in interpreting participant understanding. The best understood domains included: the nature of the study, benefit to future patients, and the voluntary nature of participation. Lower knowledge scores included: potential risks and discomforts, experimental nature of the research, procedures in the event of study-related injury, and confidentiality issues. Qualitatively, confidentiality protections of the study were described as good by most (>50%). Although some cited concerns with employer (12%) or insurance discrimination (25%), most considered the risks to privacy low (25%) or none (approximately 60%). Only 10% of participants explicitly stated they had no expectation for personal benefit, and when asked whether they expected to be contacted with study results, respondents were split between having no expectation (39%), being hopeful for results (37%) and expecting to be contacted with results (12%). These findings are informative to those establishing and implementing biobanks, and to the IRBs reviewing such studies.

    View details for DOI 10.1002/ajmg.a.32635

    View details for Web of Science ID 000263433400009

    View details for PubMedID 19161150

  • What is the role of nongeneticist physicians, and are they prepared for it? The virtual mentor : VM Ormond, K. E. 2009; 11 (9): 678-682
  • Medical ethics for the genome world - A paper from the 2007 William Beaumont Hospital Symposium on molecular pathology 16th Annual Symposium on Molecular Pathology - DNA Technology in the Clinical Laboratory Ormond, K. E. AMER SOC INVESTIGATIVE PATHOLOGY, INC. 2008: 377–82


    Medical genetics, and in particular the areas of genetic testing and genetic counseling, are replete with ethical and social issues. This review provides readers with a summary of the genetic testing and counseling process, as well as the clinical challenges that can lead to ethical dilemmas during these processes. Using a clinical medical ethics approach, several hypothetical case scenarios are presented and discussed to provide examples of the ethical issues that can arise.

    View details for DOI 10.2353/jmoldx.2008.070162

    View details for Web of Science ID 000258985300001

    View details for PubMedID 18687790

  • Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: Genetic counseling implications MOVEMENT DISORDERS Paganoni, S., Seelaus, C. A., Ormond, K. E., Opal, P. 2008; 23 (1): 154-155

    View details for DOI 10.1002/mds.21797

    View details for Web of Science ID 000252901400031

    View details for PubMedID 17987652

  • What do patients prefer: informed consent models for genetic carrier testing. Journal of genetic counseling Ormond, K. E., Iris, M., Banuvar, S., Minogue, J., Annas, G. J., Elias, S. 2007; 16 (4): 539-550


    The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.

    View details for PubMedID 17492496

  • Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians' roles during and after prenatal diagnosis PRENATAL DIAGNOSIS Eldahdah, L. T., Ormond, K. E., Nassar, A. H., Khalil, T., Zahed, L. F. 2007; 27 (6): 525-534


    To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results.Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center Cytogenetics Laboratory database of patients with abnormal amniocentesis results between 1999 and 2005.Obstetricians were primarily male, Christian, and with an average of 14 years of experience. They reported doing most pre-amniocentesis counseling, including discussion of risk for common autosomal aneuplodies (95%), and procedure-related risk (95%). Obstetricians reported that 80% of patients at risk for aneuploidy underwent amniocentesis. The study population reported on 143 abnormal test results (124 autosomal abnormalities). When disclosing results, obstetricians reportedly discussed primarily physical and cognitive features of the diagnosis. They varied in levels of directiveness and comfort in providing information. Our records showed that 59% of pregnancies with sex chromosome abnormalities were terminated compared to 90% of those with autosomal aneuploidies; various reasons were proposed by obstetricians.This study is among the few to assess prenatal diagnosis practices in the Middle East, with a focus on the role of the obstetrician. Given the influence of culture and social norms on prenatal decision-making, it remains important to understand the various impacts on clinical practice in many nations.

    View details for DOI 10.1002/pd.1721

    View details for Web of Science ID 000247691100006

    View details for PubMedID 17367106

  • The next exclusion debate: Assessing technology, ethics, and intellectual disability after the human genome project MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS Munger, K. M., Gill, C. J., Ormond, K. E., Kirschner, K. L. 2007; 13 (2): 121-128


    Recent scientific discoveries have made it much easier to test prenatally for various genetic disabilities, such as Down syndrome. However, while many observers have heralded such "advances" for their effectiveness in detecting certain conditions, others have argued that they perpetuate discrimination by preventing the birth of children with disabilities. This article examines the ethical and social implications of the Human Genome Project for individuals with intellectual disabilities and their families. It details the critique of prenatal testing articulated by many disability rights activists as well as scholarly and professional responses to that critique. A review of the pertinent research literature includes perspectives of genetic professionals, ethicists, disability studies scholars, parents of children with disabilities, and disabled individuals themselves. Finally, the article explores how future research endeavors, policies, and practices may more effectively integrate and respect the positions of these various stakeholders.

    View details for DOI 10.1002/mrdd.20146

    View details for Web of Science ID 000248009800004

    View details for PubMedID 17563891

  • Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children. American journal of medical genetics. Part A Hiraki, S., Ormond, K. E., Kim, K., Ross, L. F. 2006; 140 (21): 2312-2319


    There is movement to expand newborn screening (NBS) to include conditions that challenge the traditional public health screening criteria. Little is known about the attitudes of genetic counselors towards expanding NBS and offering predictive genetic tests to children. For our study genetic counselors completed an internet survey posted on the National Society of Genetic Counselors Listserv regarding five conditions: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), glucose-6-phosphate dehydrogenase deficiency (G6PD), fragile X (FraX), and type 1 diabetes (T1D). The survey addressed attitudes towards: (1) testing high-risk infants; (2) mandatory NBS; (3) population screening beyond the newborn period; and (4) testing one's own child. Two hundred sixty-seven usable surveys were received. Over two-thirds of respondents supported testing high-risk infants for all conditions except T1D (22%). CF was the only condition for which there was majority support for both mandatory NBS (56%) and later population screening (60%). For all other conditions, later population screening was preferred over NBS (P

    View details for PubMedID 17036312

  • Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children Annual Meeting of the American-College-of-Medical-Genetics Hiraki, S., Ormond, K. E., Kim, K., Friedman Ross, L. WILEY-BLACKWELL. 2006: 2312–19
  • Disclosing genetic research results: Examples from practice AMERICAN JOURNAL OF BIOETHICS Ormond, K. E. 2006; 6 (6): 30-32

    View details for DOI 10.1080/15265160600935944

    View details for Web of Science ID 000241794300010

    View details for PubMedID 17085402

  • The relationship of nondirectiveness to genetic counseling: report of a workshop at the 2003 NSGC Annual Education Conference. Journal of genetic counseling Weil, J., Ormond, K., Peters, J., Peters, K., Biesecker, B. B., LeRoy, B. 2006; 15 (2): 85-93


    Nondirectiveness has been a guiding principle for genetic counseling since the founding of the profession. However, its efficacy and appropriateness in this role have been frequently questioned. A workshop at the 2003 Annual Education Conference of the National Society of Genetic Counselors provided audience participation in a discussion of these issues. Participants presented arguments for and against nondirectiveness as a central ethos. They described complex personal transitions in adapting what they had learned about nondirectiveness during training to the realities of the workplace. There was support for flexible approaches to genetic counseling, with varying adherence to nondirectiveness, based on client and family needs and values, clinical circumstances, and desired counseling outcomes. The discussion supports the use of clinical experience, outcomes research, and the experience of other professions to move beyond nondirectiveness and more accurately identify the theoretical bases that underlie genetic counseling in the variety of circumstances in which it is currently practiced.

    View details for PubMedID 16525897

  • Implementing prenatal screening for cystic fibrosis in routing obstetric practice AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY Ormond, K. 2006; 194 (3): 904-904

    View details for DOI 10.1016/j.ajog.2005.07.026

    View details for Web of Science ID 000235985600054

    View details for PubMedID 16522439

  • Genetic risk assessment and BRCA mutation testing ANNALS OF INTERNAL MEDICINE Ormond, K. E., Bellcross, C., Weissman, S. 2006; 144 (4): 303-304

    View details for Web of Science ID 000235543100014

    View details for PubMedID 16490919

  • Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program. Journal of genetic counseling Hegwer, G., Fairley, C., Charrow, J., Ormond, K. E. 2006; 15 (1): 61-70


    Carrier testing is offered on the basis of Ashkenazi Jewish background in both the prenatal and preconception settings, with the goal of decreasing the prevalence of affected individuals and allowing informed decision-making during childbearing. The purpose of this study was to (1) document the demographic characteristics of individuals who attended a free education and screening program, (2) learn how the education program changed attendees' knowledge and attitudes by learning more about these disorders, and (3) determine how participants perceived their carrier status risk. One hundred seventy-four individuals completed questionnaires at the beginning and end of an educational program about the Ashkenazi Jewish genetic disorders. There was a statistically significant difference in the participant's level of knowledge from the pre- to post education (p < .001). Females reported a significantly higher level of concern about the disorders (p = .004) and their carrier status (p = .006) before the education, as well as about their carrier status post education (p = .05). Finally, having one or more parent affiliated with Orthodox Judaism was related to higher knowledge before the education program (p = .05). In conclusion, this study demonstrated that an educational carrier screening program increased knowledge about the disorders and also produced mild anxiety regarding personal and reproductive risks.

    View details for PubMedID 16468087

  • Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American journal of medical genetics. Part A Adam, M. P., Hennekam, R. C., Keppen, L. D., Bull, M. J., Clericuzio, C. L., Burke, L. W., Ormond, K. E., Hoyme, E. H. 2005; 137 (2): 117-124


    The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed.

    View details for PubMedID 16086394

  • Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities AMERICAN JOURNAL OF MEDICAL GENETICS PART A Adam, M. P., Hennekam, R. C., Keppen, L. D., Bull, M. J., Clericuzio, C. L., Burke, L. W., Ormond, K. E., Hoyme, H. E. 2005; 137A (2): 117-124
  • NSGC foundations-then, now, and tomorrow. Journal of genetic counseling Ormond, K. 2005; 14 (2): 85-88


    This 2004 Presidential Address was presented at the annual education conference of the National Society of Genetic Counselors in Washington DC on October 9, 2004.

    View details for PubMedID 15959639

  • Outline of a medical genetics curriculum for internal medicine residency training programs GENETICS IN MEDICINE Riegert-Johnson, D. L., Korf, B. R., Alford, R. L., Broder, M. I., Keats, B. J., Ormond, K. E., Pyeritz, R. E., Watson, M. S. 2004; 6 (6): 543-547


    To keep pace with the rapid advances in medical genetics, internal medicine residency training programs need to train internists to develop new attitudes, knowledge bases, and skill sets. Currently, such programs have no medical genetics curriculum. Thus, to set a minimum standard for genetics education in the context of training in internal medicine, the Internal Medicine Residency Training Program Genetics Curriculum Committee was formed, with members representing professional organizations of medical geneticists, internists, genetic counselors, internal medicine and genetics residency program directors, and internal medicine residents. The committee's task was to develop a concise outline of a medical genetics curriculum for residents in internal medicine in accordance with requirements of the Residency Review Committee for Internal Medicine of the Accreditation Council for Graduate Medical Education. The curriculum outline was drafted and circulated for comment. Before publication, the final document was approved by those member organizations that had a policy of approving curricula. Key learning objectives of the curriculum include appreciation of the rapid advances in genetics, the need for lifelong learning, the need for referral, and the role of genetic counselors and medical geneticists, as well as developing the ability to construct and analyze a three-generation pedigree. A wide variety of teaching methods can be useful in these regards, including didactic lectures, multimedia CD- ROMs, and clinical experience. Teaching should be related to clinical experiences whenever possible. The curriculum developed by the committee and presented in this article will assist in teaching residents the attitudes, knowledge, and skills they will require.

    View details for DOI 10.1097/01.GIM.0000144561.77590.85

    View details for Web of Science ID 000225180000015

    View details for PubMedID 15545754

  • Attitudes of health care trainees about genetics and disability: issues of access, health care communication, and decision making. Journal of genetic counseling Ormond, K. E., Gill, C. J., Semik, P., Kirschner, K. L. 2003; 12 (4): 333-349


    Prior studies suggest that knowledge and attitudes of health care professionals influence patient communication and medical decision-making. To study this dynamic in the context of genetic disability, we developed a survey on health professionals' attitudes regarding disability and genetic screening and pilot-tested it on a sample of medical students, residents, and genetic counseling students (N=85). Despite minimal experience with disability or genetics, most respondents reported feeling comfortable dealing with genetics (59%) and disability (75%). The majority felt that disability caused significant suffering for both the person (51%) and family (64%), and that research should be directed toward preventing genetic disability (62%). Similar to prior literature, perceived "Quality of Life" was most often based on degrees of physical and cognitive functioning, pain, and social support. However, differences were found between genetic counseling trainees and other medical trainees in their relative emphasis of social versus medical issues in questions of disability and genetic testing, and these response patterns were associated with differences in the groups' priorities for offering information about social resources. Respondents agreed that access to genetic testing and information is personal and that testing should be available upon request for oneself (68%) and to a lesser degree for one's fetus (55%) or child (41%). However, the same individuals frequently stated that society should regulate access to such technologies. Although most felt that the patient and professional should jointly make such decisions on a case-by-case basis, it was also seen as appropriate for the health care professional to occasionally decline genetic testing. It seems appropriate that training and experience influence knowledge and attitudes. Therefore, it is critical to document knowledge and attitudes of various health care providers and trainees, including differences between various specialties, to improve educational interventions geared to this area.

    View details for PubMedID 14682357

  • Effect of family history on disclosure patterns of cystic fibrosis carrier status AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Ormond, K. E., Mills, P. L., Lester, L. A., Ross, L. F. 2003; 119C (1): 70-77


    As general population screening becomes more common, an increasing number of cystic fibrosis (CF) carriers will be identified who do not have a family history of CF. Whether these carriers inform their relatives of their carrier status and whether their relatives are motivated to pursue carrier screening is unknown. We surveyed CF carriers with and without a family history of CF to understand whether and how information dissemination patterns differ, why information is or is not shared, and to what extent relatives are known to undergo testing. CF carriers were identified from a general population carrier screening clinic (group B = 18) or were parents of affected children followed at a CF clinic (group A = 30). CF carriers with a family history told essentially 100% of their living parents, siblings, and half-siblings, while those without a family history told 84% of living parents and 56% of siblings (P < 0.05). Despite the high rate of information dissemination in both groups, few siblings were known to have undergone carrier screening (14/74). Significantly fewer second- and third-degree relatives were informed about carrier status or were known to have undergone carrier screening. Group A was more likely to inform second- and third-degree relatives about carrier status. Our study documents that the frequency and reasons for disclosing CF carrier status differ between individuals with and without a family history of CF despite the fact that the reproductive risks for their relatives are the same.

    View details for DOI 10.1002/ajmg.c.10008

    View details for Web of Science ID 000182647700010

    View details for PubMedID 12704640

  • The genetic family history as a risk assessment tool in internal medicine. Genetics in medicine Frezzo, T. M., Rubinstein, W. S., Dunham, D., Ormond, K. E. 2003; 5 (2): 84-91


    The study goals were to (1) determine the proportion of unselected individuals at increased risk for diseases with known genetic components and (2) compare the documentation and quality of risk assessment between a questionnaire, a pedigree interview, and chart review.Seventy-eight patients seen in a division of internal medicine were randomized into two groups, which completed a questionnaire or underwent a pedigree interview. Chart notes were compared to both study tools.Sixty-two (79.5%) of the 78 participants scored at increased risk for at least one category. Either of the two study tools found significantly more people at high risk (48/78, 61.5%) than the chart review (31/78, 39.7%) (P = 0.01).Approximately 20% of patients in an unselected internal medicine practice were at an increased risk that was not documented in reviewed chart notes. Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.

    View details for PubMedID 12644777

  • The genetic family history in internal medicine as a risk assessment tool GENETICS IN MEDICINE Frezzo, T. M., Rubinstein, W. S., Dunham, D., Ormond, K. E. 2003; 5 (2): 84-91
  • The impact of genetic technologies on perceptions of disability. Quality management in health care Kirschner, K. L., Ormond, K. E., Gill, C. J. 2000; 8 (3): 19-26


    Advances in human genetics will profoundly affect many medical specialties, including obstetrics, genetics, internal medicine, pediatrics and family medicine. Studies show that communication between health care professionals and patients is biased, in part, by the professionals' prior experiences, knowledge, and attitudes toward disability. Little research has been performed to assess these attitudes in the context of genetic disability. The authors present: (1) a brief overview of the development in genetic technologies and disability, (2) a review of the literature around health care provider knowledge and attitudes focusing on disability, (3) a discussion of current disability education in medical curricula, and (4) suggestions for preparing health care providers to deal with issues of genetics and disability.

    View details for PubMedID 10947381

  • Pregnancy outcome following maternal use of the new selective serotonin reuptake inhibitors - A prospective controlled multicenter study JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION Kulin, N. A., Pastuszak, A., Sage, S. R., Schick-Boschetto, B., Spivey, G., Feldkamp, M., Ormond, K., Matsui, D., Stein-Schechman, A. K., Cook, L., Brochu, J., Rieder, M., Koren, G. 1998; 279 (8): 609-610


    Although a large number of women of reproductive age use new selective serotonin reuptake inhibitors (SSRIs) and half of all pregnancies are unplanned, no data exist on the safety of these agents for the human fetus.To assess fetal safety and risk of fluvoxamine, paroxetine, and sertraline.A prospective, multicenter, controlled cohort study.Nine Teratology Information Service centers in the United States and Canada.All women who were counseled during pregnancy following exposure to a new SSRI and followed up by the participating centers. Controls were randomly selected from women counseled after exposure to nonteratogenic agents.Rates of major congenital malformations.A total of 267 women exposed to an SSRI and 267 controls were studied. Exposure to SSRIs was not associated with either increased risk for major malformations (9/222 live births [4.1%] vs 9/235 live births [3.8%] in the controls, relative risk, 1.06, 95% confidence interval, 0.43-2.62) or higher rates of miscarriage, stillbirth, or prematurity. Mean (SD) birth weights among SSRI users (3439 [505] g) were similar to the controls (3445 [610] g) as were the gestational ages (39.4 [1.7] weeks vs 39.4 [1.9] weeks).The new SSRIs, fluvoxamine, paroxetine, and sertraline, do not appear to increase the teratogenic risk when used in their recommended doses.

    View details for Web of Science ID 000072041900037

    View details for PubMedID 9486756

  • Accidental electric shock in pregnancy: A prospective cohort study AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY Einarson, A., Bailey, B., Inocencion, G., Ormond, K., Koren, G. 1997; 176 (3): 678-681


    Our purpose was to quantify fetal risk after accidental electric shock in pregnancy.All pregnant women who were counseled by the Motherisk Program in Toronto and by the Vermont Pregnancy Risk Information Service in Burlington after having an electric shock during pregnancy were enrolled in a prospective, controlled, observational study.Thirty-one women were followed up after delivery: 26 had been exposed to 110 V, 2 to 220 V, 2 to high voltage, and 1 to 12 V. Twenty-eight women gave birth to healthy normal infants, one had a child with a ventricular septal defect, and two had spontaneous abortions. In the control group there were 30 healthy babies; one woman had a spontaneous abortion. There were no differences between the groups in pregnancy outcome, birth weight, gestational age, type of delivery, or rates of neonatal distress.In most cases accidental electric shock occurring during day-to-day life during pregnancy does not pose a major fetal risk.

    View details for Web of Science ID A1997WR88600034

    View details for PubMedID 9077628