Patients’ Awareness and Attitudes Towards Genetic Carrier Screening [22H]

• DOI: 10.1097/01.aog.0000514924.67415.e7
• Publication Date: 2017-05-06T17:56:58Z
• Authors: Allison Briggs; Parvaneh Nouri; Michael Galloway; Jerome L. Yaklic; Rose Maxwell; Steven Lindheim
• Keywords: 0301 basic medicine; 03 medical and health sciences; Medical Specialties; Medicine and Health Sciences; Obstetrics and Gynecology; 3. Good health

INTRODUCTION: Genetic Carrier Screening (GCS) is an important part of gynecological practice and preconception planning. We evaluated the awareness and attitudes among women regarding preconception GCS and factors that may influence decision-making in a family planning context.

METHODS: A 32 question survey in an academic university practice was given to 521 women who were either currently pregnant (n=108); undergoing gynecologic care who were considering future fertility (n=308) and infertility patients (n=105). Data are reported descriptively.

RESULTS: Forty-seven percent (n=245) of patients were aware of GCS. Though most reported feeling positive or neutral towards GCS, 51% (n=263) reported no desire for testing. Fifty-eight percent (n=303) felt it beneficial to know their carrier status, and 49% (n=257) said it was their responsibility to undergo testing. With respect to abnormal genetic findings, 48% (n=251) would never undergo an elective termination regardless of screening results, and 29% (n=151) would do nothing if they discovered they were a carrier for a genetic disease including pre-implantation genetic diagnosis or amniocentesis. Related to cost for GCS, 37% (n=191) would be willing to pay at least $50-100 for testing, while 28% (n=146) would not pay anything out of pocket.

CONCLUSION: Despite patients’ beliefs that it would be beneficial and their responsibility to undergo carrier status testing, the majority reported no desire for GCS and many were unwilling to pay out of pocket. Further education is necessary to reconcile the gap between technology and patient decision-making.