Francis Collins, in his book The Language of Life published in 2010, predicted that within a decade all newborns would have their entire genomes sequenced at birth. Certainly, the cost of whole genome sequencing (WGS) itself, which is now approximately 1000 USD and will surely fall further, is not a serious impediment at least in developed countries. Knowing how to use the information, by contrast, is difficult and costly. In this talk, I will defend two positions.
1. Having the whole genome sequence will do little to improve individual health, even when we know much more about the human genome than we do today.
2. Having the whole genome sequence will raise of host of ethical and legal challenges, including
a. Where will the information reside, and what implications follow?
b. Who will have access to the sequence information and for what purposes? This is particularly complex in the pediatric setting.
c. What criteria will be used to decide when information about a particular variant is ready for clinical use? This question highlights debates about the intersection of evidence based medicine and the standard of care as well as to whom the benefit should run? More practically, it raises questions about the information needed for decision support for both clinicians and patients can appropriately be displayed.
d. What obligations will clinicians and holder of WGS have to patients when interpretations change in the future? This raises issues of so-called “look back liability” or “duty to follow up.”
Ellen Wright Clayton, J.D., M.D. is an internationally respected leader in the field of law and genetics who holds appointments in the law and medical schools as well as the Center for Biomedical Ethics and Society at Vanderbilt University. She has published two books and more than 100 scholarly articles and chapters in medical journals, interdisciplinary journals and law journals on the intersection of law, medicine and public health. In addition, she has collaborated with faculty and students throughout Vanderbilt and in many institutions around the country and the world on interdisciplinary research projects, most recently coordinating the Consent and Community Consultation working group of a five-institution consortium exploring the use of electronic medical records for genome-wide association studies. She has helped to develop policy statements for numerous national and international organizations and is working with HUGO on its project: Imagined Futures: Capturing the Benefits of Genome Sequencing for Society.
Her work extends to other arenas as well. An active participant in policy debates, she has advised the National Institutes of Health as well as other federal and international bodies on an array of topics ranging from children's and women’s health to the ethical conduct of research involving human subjects. Professor Clayton has worked on a number of projects for the Institute of Medicine and is currently a member of its National Advisory Council, director of its Board on Population Health and Public Health Practice, chair of its committee on federally funded family planning and a member of another committee. She is a graduate of Duke University, Stanford University, Yale Law School, and Harvard Medical School.