Commercialization of BRCA1/2 testing: Practitioner awareness and use of a new genetic test

Mk. Cho et al., Commercialization of BRCA1/2 testing: Practitioner awareness and use of a new genetic test, AM J MED G, 83(3), 1999, pp. 157-163
Citations number
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ISSN journal
0148-7299 → ACNP
Year of publication
157 - 163
SICI code
It was our purpose to determine the characteristics of practitioners in the United States who were among the first to inquire about and use the BRCA1 and BRCA2 (BRCA1/2) genetic tests outside of a research protocol. Questionn aires were mailed to all practitioners who requested information on or orde red a BRCA1/2 test from the University of Pennsylvania (UPenn) Genetic Diag nostics Laboratory (GDL)between October 1, 1995 and January 1, 1997 (the fi rst 15 months the test was available for clinical use). The response rate was 67% of practitioners; 54% (121/225) were genetic coun selors, 39% (87/225) were physicians or lab directors. Most physicians were oncologists, pathologists, or obstetrician/gynecologists, but 20% practice d surgery or internal or general medicine. Fifty-six percent (125/225) had ordered a BRCA1/2 test for a patient; most of the rest had offered or were willing to offer testing, Of those who had offered testing, 70% had a patie nt decline BRCA1/2 testing when offered. Practitioners perceived that patie nts' fear of loss of confidentiality was a major reason for declining, Near ly 60% of practitioners reported that their patients had access to a geneti c counselor, but 28% of physicians who ordered a BRCA1/2 test reported havi ng no such access, despite the GDL's counseling requirement, The proportion of physicians reporting no access to genetic counselors for their patients increased from 22.4% in the first half of the study to 50% in the last hal f. Many practitioners have an interest in BRCA1/2 testing, despite policy s tatements that discourage its use outside of research protocols. Practition er responses suggest that patient interest in testing seems to be tempered by knowledge of potential risks. An apparent increase in patient concern ab out confidentiality and inability to pay for testing could indicate growing barriers to testing. Although most practitioners reported having access to counseling facilities, perceived lack of such access among an increasing p roportion of practitioners indicates that lab requirements for counseling a re difficult to enforce and suggests that an increasing proportion of patie nts may not be getting access to counseling. (C) 1999 Wiley-Liss, Inc.