Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

Abstract

Purpose Expanded genetic carrier screening (ECS) is an important part of gynecological practice and preconception planning. We evaluated the awareness and attitudes among women regarding ECS 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 considering or receiving fertility treatment (n = 105). Data are reported descriptively. Results Forty-seven percent (n = 246) of patients were aware of ECS. Though most reported feeling positive or neutral towards ECS, 51% (n = 263) reported no desire for testing. Fifty-eight percent (n = 303) felt it beneficial to know their carrier status, and 55% (n = 257) said it was their responsibility to undergo testing. Those considering future fertility were found to have a more positive attitude towards ECS (51.4%) than those considering or receiving fertility treatment (34%). For positive carriers of a genetic disorder, 228 (49%) of patients would proceed with having their partner screened, 58 (13%) would undergo prenatal screening only and 12 (2.6%) would continue with vitro fertilization (IVF). Related to cost for ECS, 53.5% (n = 191) would be willing to pay at least $50-100 for testing, while 29% (n = 146) would not pay anything out of pocket. Conclusions Despite patients' beliefs that it would be beneficial and their responsibility to undergo carrier status testing, the majority reported no desire for ECS and many were unwilling to pay out of pocket. Further education is necessary to reconcile the gap between technology and patient decision-making.

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

“…One study that investigated the impact of ECS showed that respondents with negative test results generally did not experience long-term negative emotional impact, and only reported heightened anxiety while waiting for the test results [ 13 ]. Additional studies have shown that the information from ECS could relieve uncertainty and anxiety [ 17 ], was of value to participants [ 11 , 18 ] and led to informed reproductive decision making [ 19 ]. Reasons to have ECS among both high-risk groups and the general population need further investigation [ 10 ].…”

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

“…The IEMs included in ECS panels generally have a progressive course. Previous studies in the USA, Sweden and the Netherlands have investigated the opinions of the general population toward universal preconception ECS and reported that between 30% and 34% of the respondents would consider to use preconception ECS [ 10 – 12 ]. The study by Ong et al, conducted in Australia, showed that genetic knowledge, i.e., baseline knowledge on genetics, is instrumental in influencing ECS participation [ 13 ].…”

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study

“…Most of them felt positive or neutral towards ECS while half reported no interests in testing. If they were screened to be positive carriers, around 50% of them would not proceed with the sequential testing of their partners [ 28 ]. There are multiple factors affecting attitudes and opinions towards ECS held by patients, such as familiarity with genetic conditions, residual risk of diseases screened, stress from testing, and financial concerns [ 29 ].…”