Preimplantation genetic diagnosis (PGD) has been available for nearly 10 years, and this approach presently is practiced in 17 countries for an increasing number of indications. The few studies done suggest that PGD is most accepted by women who have previously had an affected pregnancy terminated. Because substantial investment is needed to set up a PGD program, for both equipment and highly trained personnel, an attempt was made to determine the level of demand for the procedure in the United Kingdom in a survey of patient interest groups, regional genetics centers, assisted conception units, and health authorities. Couples were sent a questionnaire to learn how aware they are of PGD technology. The conditions targeted for the survey included cystic fibrosis, thalassemia, retinitis pigmentosa, Duchenne muscular dystrophy, hemophilia, leukodystrophy, Huntington disease, and sickle cell anemia.
More than 70 percent of the institutions surveyed and all patient interest groups responded to the questionnaire. In vitro fertilization units reported referring up to 156 cases annually, and genetics centers reported referring 52. Patient interest groups knew of another 48 referrals. Two-thirds of regional genetics centers were aware of PGD methods of diagnosing cystic fibrosis, but fewer knew of methods for diagnosing X chromosome–linked disorders or chromosomal translocations. About one-fourth of the centers still believe that accuracy and reliability are controversial issues. About one-fourth of in vitro fertilization units had referred couples for PGD, chiefly to detect cystic fibrosis. Eight of nine patient groups were aware of PGD, but only two knew which hospitals offer the procedure. A large majority of patient groups and one-third of genetic centers reported believing that inadequate information is available on PGD. Only 18 percent of the health authorities surveyed have a policy for PGD, and nearly two-thirds were unaware of the procedure. About three in four authorities did not know how the cost of a cycle of PGD compares with that of caring for an affected child. This survey in itself seems to have raised awareness of PGD. Contact with patient interest groups has been especially fruitful. It would seem that a lack of information about this practice has limited patient choices.
Prenat Diagn 1999;19:1205–1208