Personal Genomics and Next-Generation Sequencing

Research Overview:


  1. Assess the current and projected state of personal genomics as perceived by those actively involved in its development, with a specific focus on barriers to scaling up genomic sequencing.
  2. Determine how developments in whole genome sequencing will translate into clinical practice.
  3. Identify ethical and social implications for the scale-up of full-genome sequencing.

In 2006, Dr. Francis Collins, then Director of the National Human Genome Research Institute (NHGRI) predicted that in the next two or three years, we would see “an absolute explosion of information about the genetics of common disease,” and that this tidal wave of information would revolutionize clinical care. Four years later, we have made astounding progress in understanding the genetic causes of many diseases, and in developing technologies that allow us to sequence individual genomes at ever increasing speed and decreasing cost. Indeed we are fast approaching the reality of the “$1,000 genome,” when just a few years ago the genome cost millions of dollars to sequence. But have the rapid advances in genomic research and technology development truly ushered in the “age of personalized medicine,” as so many predicted?  Many current studies focus on the impact on consumers of receiving the results of personal genomics tests.  However, little attention has been paid to the technical and ethical barriers to realizing personal genomics on a wide scale.

By conducting interviews with researchers in genetics and genomics, we plan to assess the current and future applications of whole genome sequencing, the anticipated challenges in the development of the technology, and the ethical, legal, and social considerations of implementing sequencing technologies in research and clinical settings.


Wolpert, M. Is the Age of the $1000 Genome Here? Perspectives from Genome Researchers, in ELSI Congress. 2011: Chapel Hill, NC.


  • Tobin SL, Cho MK, Lee SSJ, Magnus DC, Allyse M, Ormond KE, Garrison NA. (2012) Customers or research participants?: Guidance for research practices in commercialization of personal genomics. Genetics in Medicine.
  • Lee SS.-J. (2012) Race, Risk and Recreation in Personal Genetics: the Limits of Play. Medical Anthropology Quarterly.
  • Richardson, HS and Cho, MK (2012) Secondary Researchers’ Duties to Return Incidental Findings and Individual Research Results: A Partial-Entrustment Account. Genetics in Medicine, 14, 467-472.
  • Ormond, KE, Hudgins, L, Ladd, JM, Magnus,D, Greely, HT, Cho, MK. (2011) Medical and graduate students’ attitudes towards personal genomics.  Genetics in Medicine 13:400-408.
  • Allyse M, Milner L and Cho MK. The G.I. genome: Ethical implications of genome sequencing in the military. Nature Reviews Genetics, 12 (9), 589.
  • Cho, MK and MN Wolpert. Not Yet in Sequence: Clinical, Technical, Ethical Questions Linger Over Personal Genomics. Modern Healthcare, Nov. 2010, p. 24.

Research Personnel

Kelly Ormond, CIRGE Co-Investigator and Professor of Genetics
Dr. Mildred Cho, CIRGE Principal Investigator