Counseling issues in genetic screening.

During today's presentations, we have heard about existing and new technologies that can expand the scope of newborn and genetic screening. My role as a genetic counselor in this sphere involves assisting individuals and families as they go through the process of confirmation of some screening results, follow-up care, and family adjustment. In addition, I counsel families who are making decisions about DNAbased carrier testing, a group facing concerns illustrative ofmany important issues in expanded population genetic screening. I would like to present some thoughts about the evolution of these roles as screening expands. These ideas will touch on family and societal issues, public policy concerns, education, and provision of genetic services. As we have heard, new molecular screening techniques can identify not only affected individuals, but also carriers of an increasing number of genetic conditions. These techniques must be applied in such a way as to provide information in a maximally beneficial fashion. For example, early diagnosis of cystic fibrosis would allow early therapeutic intervention, thus maximizing outcome for the patient. A carrier who might be identified by the same test gains no medical benefit from the knowledge of carrier status, however, and, in fact, may experience adverse psychological consequences if the information is learned at an age when it cannot be reasonably understood or assimilated. Such an individual may have decided against screening, an option not available if screening is performed in the newborn period [1]. Care must be taken not to disrupt this person's privilege of self-determination. As Attorney Andrews stated, genetic screening also has significant implications for extended family members. In the cystic fibrosis example, an individual's population carrier risk of /25 is increased to 1/2 if a sibling is found to be a carrier for the disease. A balance must be struck between an individual's knowledge of a significant increase in genetic risk and the screened sibling's right to confidentiality [2,3,4]. Another consideration, as Dr. McCabe explained this morning, would be the population of couples where one member is identified as a carrier of cystic fibrosis and the other has a negative carrier test. Since this negative test is not 100 percent accurate because all mutations cannot at present be detected, the psychological ramifications of this situation could be significant. Children awaiting placement for adoption represent an additional group of individuals potentially affected by expanded genetic screening [4,5]. Knowledge of carrier status or susceptibility to later-onset conditions of medical importance may