Epstein-Barr Virus Transformation of Cryopreserved Lymphocytes: Prolonged

We wish to thank Dr. James E. Bowman for his thoughtful and generally positive comments (Bowman 1991) on our study of prenatal screening for hemoglobinopathies (Loader 1991; Rowley 1991a, 1991b). We also wish to comment on three matters in which our intentions may have been misinterpreted. Dr. Bowman states that, by not offering prenatal diagnosis to women with sickle trait if the father of the fetus was not available for testing, we concealed important reproductive options and thus subscribe to paternalism rather than to the principle of patient autonomy. In fact, we did inform all sickle trait women who came for counseling regarding all their options. However, we did not offer fetal genotyping free unless the baby's father was tested, because the funds to pay for this service came from an NIH-sponsored project that measured the patient's degree of interest in determining her fetus's risk of having a symptomatic hemoglobinopathy by whether she had her partner tested. In a setting of service rather than of research, we believe that the offering of prenatal diagnosis to a sickle cell trait woman whose partner is not tested requires a case-by-case decision. For example, if the father cannot be located but has a known family history of sickle cell disease, the offer of prenatal diagnosis is certainly reasonable. On the other hand, if the partner is in the household, has no family history of sickle cell disease, and refuses to be tested merely to avoid the discomfort of phlebotomy, must one not question the appropriateness of amniocentesis? In 90% of such cases the father will be normal, and the fetus would be subjected to an invasive procedure yet would not be at any risk of a symptomatic hemoglobinopathy. Furthermore, the lack of knowledge of the partner's genotype handicaps the fetal diagnosis of variant forms of sickle cell disease. Dr. Bowman also expresses concern that we left the decision about informed consent for screening to the patient's physician. Here again, because our mission was to determine the receptivity of the pregnant population at large to prenatal hemoglobinopathy screening, it was desirable that the number of women screened be maximal and not be reduced in a haphazard way by as many different informed-consent procedures as there were participating physicians in the community. Finally, Dr. Bowman laments that we did not institute a period of community education before beginning screening. On the contrary, our purpose was to try to show that women benefit from genetic screening that can be provided entirely by existing components of our health care system. Genetic screening in a primary health care setting has many advantages over that in non-health care settings, advantages such as a more comprehensive coverage of the population, the provision of testing at a time in life appropriate for the testee rather than merely convenient for the tester, the limiting of knowledge of the results to the provider and to the patient, and the greater likelihood of appropriate medical follow-up. The large number of potentially useful genetic screening tests on the horizon requires that we learn how best to incorporate genetic screening into the health care system; one cannot expect there to be an organization prepared to mount periodic community education and/ or screening for every relevant genetic condition. We are currently completing a study of prenatal hemoglobinopathy screening, a study that compares the counseling effectiveness of primary care providers with that of experienced genetic counselors in terms of the proportion of positive individuals counseled, the adequacy ofpatient learning, and the frequency of partner testing.