Kelly E. Ormond, MS, CGC

Abstract

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

Abstract

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

View details for DOI 10.1002/mgg3.45

View details for PubMedID 24498615

Abstract

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

View details for DOI 10.1186/gm428

View details for Web of Science ID 000319861100001

Abstract

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

Abstract

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 PubMedID 23728783

Abstract

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

View details for DOI 10.1038/gim.2012.64

View details for Web of Science ID 000309645900001

View details for PubMedID 22699154

Abstract

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 PubMedID 22297411

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

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

View details for PubMedID 19241151

Abstract

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

View details for DOI 10.1001/virtualmentor.2009.11.9.medu1-0909

View details for PubMedID 23199462

Abstract

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

View details for DOI 10.1002/mds.21797

View details for Web of Science ID 000252901400031

View details for PubMedID 17987652

Abstract

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

Abstract

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

Abstract

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

Abstract

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 DOI 10.1002/ajmg.a.31485

View details for Web of Science ID 000241906300006

View details for DOI 10.1080/15265160600935944

View details for Web of Science ID 000241794300010

View details for PubMedID 17085402

View details for DOI 10.1016/j.ajog.2005.07.026

View details for Web of Science ID 000235985600054

View details for PubMedID 16522439

View details for Web of Science ID 000235543100014

View details for PubMedID 16490919

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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