Genomics in Medicine: Today's Issues, Tomorrow's Promise

Kristin M. Beima-Sofie, MPH; Elizabeth H. Dorfman; Jonathan M. Kocarnik, MPH; Mercy Y. Laurino, MS CGC


February 13, 2013

In This Article

The Broader Implications of Genetic Sciences

The opening talk by current ASHG president Mary-Claire King had set the stage for discussions throughout the meeting about "The Scientist as a Citizen of the World."[17] Dr. King, a professor at the University of Washington, shared the story of the Egyptian activist Mona Seif and how she juggles time between furthering her graduate studies and being a citizen journalist activist in Cairo. Dr. King emphasized that "bright young scientists do not accept nonsense from those in power, and they will not be eternally patient with those responsible for it."

Dr. King characterized human geneticists as "privileged world citizens," whose work impacts not only individuals with genetic conditions but also families, ethnic communities, and the public health policies and clinical guidelines that seek to promote better health.

This same concept was again highlighted again as Drs. Brunner, Donnai, and Dietz discussed the need for increased collaboration and creation of larger-scale databases to globalize access to phenotype and genotype information, especially for rare genetic conditions. In addition to technological and statistical issues associated with handling and working with the large amounts of data created by these new technologies, Drs. Brunner and Donnai advocated for standardizing disease definitions and measurement of clinical symptoms. Dr. Donnai championed the inclusion of patients as integral parts of these collaborations and networks, mentioned the inequality in access to genetic technologies in different parts of the world, and emphasized the responsibility of clinicians in more developed countries to engage with researchers and clinicians in countries with less access to these resources. Furthermore, Dr. Jorde added the need to improve access to genetic education in addition to access to genetic technologies. He noted the challenge of integrating interpretation of genetic sequence data into current medical school curricula and the need to improve education for the general public.

Overall, whole-genome and exome sequencing have emerged as leading technological advances, giving researchers and clinicians tools to discern genetic variation for large segments of DNA and characterize genetic contributions to disease in ways that were not previously possible. However, with advances in technology come ethical and logistical challenges. Some of those touched on at ASHG 2012 were the interpretation of data, determining who has access to genetic results, and where and when these technologies should be implemented into clinical practice. It will be interesting to see what new technologic advances help address these concerns and how researchers and clinicians come together to address the emerging opportunities and challenges presented at this year's meeting.