Dr John Lantos1
1Childeren’s Mercy Hospital, Kansas City, Mo, United States
In 2014, Francis Collins, head of the NIH, proposed sequencing every baby’s genome to “shape a lifetime of personalized strategies for disease prevention, detection and treatment.” Many scientists endorse this approach. To analyze the ethical implications of such proposals, the Ethics and Policy Working Group of the NIH-funded NSIGHT Consortium convened three meetings of bioethicists, social scientists, lawyers, clinicians and industry leaders. We reviewed emerging data on the accuracy, clinical utility, and cost of genomic testing, follow-up, and treatment in different patient populations in order to propose policy recommendations. We came to different conclusions that Dr. Collins.
I will present a summary of our recommendations about genomic sequencing (GS) in four contexts: 1) Diagnostic testing for symptomatic children in NICUs; 2) Predictive testing to guide future health decisions in healthy newborns; 3) For state-mandated population screening of newborns; and 4) direct-to-consumer genomics. I will give reasons why we conclude that, as of today, only diagnostic testing for sick babies is ethically justifiable outside of a research context. The primary reason for caution in other domains is because of our vast ignorance about the meaning of many genomic variants, even ones that have been classified as clearly pathogenic. Using data from early studies of genomic sequencing for both clinical diagnosis and for public health screening, I will show the difficulties arise from lack of knowledge about the population prevalence of genomic variants, and about the penetrance, expressivity, epigenetic influences, and other factors. I will show that the results can be dangerous, leading to inappropriate treatment in some cases, and inappropriate withholding of life-support in others. Finally, I will analyze the ways in which the availability of genomic testing for newborns might change our ideas about the responsibilities of both parents and doctors to use genomic information responsibly.
John Lantos, MD, is Professor of Pediatrics at University of Missouri in Kansas City and the founding director of the Children’s Mercy Hospital Bioethics Center. There, he directs an innovative, on-line program that is training a new generation of scholars in pediatric bioethics. He has served President the American Society of Bioethics and Humanities (ASBH) as well as of the American Society of Law, Medicine, and Ethics (ASLME). He has published hundreds of peer-reviewed articles and many books. His monthly case reports in journal Pediatrics analyze a wide range of topics in pediatric bioethics, health policy, and research ethics.