The term "serious genetic disorder" appears in state laws and in ethical and policy discussions, but is never defined.To see how geneticists perceive "serious", we sent anonymous two-page questionnaires to all board-certified geneticists in the US and Canada and all members of the European and Ibero-American human genetics societies. 1481 (45%) responded. Respondents were asked to name three conditions they considered lethal, three serious but not lethal, and three not serious, using their own words. They listed 694 conditions. Of those listed as lethal, 72% were listed by other respondents as "serious but not lethal" and 43% were judged by others as "not serious". 51% of conditions reported as "serious" were listed by others as "not serious". Of 358 conditions listed as "not serious", 22% were listed as lethal and 43% were listed as "serious" by others. 64 disorders, including cystic fibrosis, sickle cell anemia, Down syndrome, Tay-Sachs, Huntington disease appeared in all three categories. A majority of US geneticists (52%)thought professional societies should not develop lists of serious disorders and that individual patients (69%) should define serious. Few (7-9%) would leave definition to national ethics or hospital ethics committees. In the US, over 74% would not limit prenatal diagnosis, access to donor gametes, carrier screening, gene therapy (after the research stage), preimplantation diagnosis or screening of donor gametes to "serious" disorders. Results suggest the practical impossibility of defining "serious" for policy purposes.
Learning Objectives: Participants should learn the difficulties of defining "serious", a commonly -used word in health law and public policy regarding genetics services and health insurance , and should appreciate the problems associated with drawing lines of any kind in new reproductive technologies and the drawbacks of each proposed mechanism for drawing such lines
Keywords: Genetics, Policy/Policy Development
Presenting author's disclosure statement:
Organization/institution whose products or services will be discussed: None
I do not have any significant financial interest/arrangement or affiliation with any organization/institution whose products or services are being discussed in this session.