Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods

Shiroff, Jennifer J.; Nemeth, Lynne S.

doi:10.1111/1552-6909.12764

Cited by 8 publications

(5 citation statements)

References 23 publications

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“…Factors such as familiarity with genetic diseases, high perceived benefits of screening, perceived risk of being carriers, and low perceived social barriers have been identified among those in favor of carrier screening [17,30]. Meanwhile, lack of knowledge, stress from testing, feelings of not being at risk, and financial limitations are the dominant concerns of those who are unsure of or are against carrier screening [20]. To optimize the clinical use of ECS, it is important to understand the public perception surrounding ethnic based CS in general and how it influences the decisionmaking process.…”

Section: Discussionmentioning

confidence: 99%

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

Pereira

Wood

Luong

et al. 2019

J Assist Reprod Genet

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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.

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Section: Discussionmentioning

confidence: 99%

“…Public perception of any genetic carrier screening is multifaceted [18][19][20][21][22][23]. The support for ethnic based CS is commonly attributed to preparedness, including decisions regarding prenatal care, disease awareness, making appropriate lifestyle changes, and seeking medical and social support [23].…”

Section: Introductionmentioning

confidence: 99%

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

Pereira

Wood

Luong

et al. 2019

J Assist Reprod Genet

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“…9,10 Previous reports gauging patients' interests in ECS are either in hypothetical ECS tests or in their actual uptake of ECS, which shows their attitudes are varied and can be influenced by numerous factors. [11][12][13][14][15] However, the great majority of individuals in these studies are European or American, which have a relatively high socioeconomic status and high-quality medical services. Nowadays, ECS is already in an exploratory stage in China, [16][17][18] which highlights the feasibility and potential use of ECS.…”

Section: Introductionmentioning

confidence: 99%

Current attitudes and preconception towards expanded carrier screening in Eastern Chinese reproductive population

Zhang

Tan

Shao

et al. 2020

Preprint

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“…Despite these recommendations, ECS is not a common practice in most countries (9)(10)(11). Public perception of genetic carrier screening is diversi ed (12)(13)(14)(15)(16)(17).…”

Section: Introductionmentioning

confidence: 99%

Public Knowledge about Monogenic Diseases and Attitudes Toward Expanded Carrier Screening in China

Yang

Chen

Hai-xia

et al. 2020

Preprint

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Background: Monogenic diseases affect about 10 in 1000 live births globally and account for 20% of infant mortality and 18% of pediatric hospitalizations. Many monogenic disorders could be prevented by offering expanded carrier screening (ECS) to the general population. The purpose of our study was to assess knowledge about monogenic diseases and attitudes toward ECS in China.Methods: Chinese individuals were invited to complete an online survey from July 11 to September 10, 2020. A total of 1663 questionnaires were collected. Statistical analysis was performed using IBM SPSS Statistics 26. Descriptive statistics were computed for all items. Categorical data were reported as frequencies and percentages with differences assessed by chi-square test.Results: The respondents’ total awareness rate ranged from 3.3% to 55.2%. Medical practitioners had more knowledge than non-medical practitioners. Knowledge about monogenic diseases was positively correlated with educational level. Most respondents showed a positive attitude toward ECS: 54.4% of respondents thought ECS was necessary, and 80.5% wanted to know more about monogenic diseases.Conclusions: Although the public had little knowledge about monogenic disease and ECS, most of them showed a positive attitude. Lack of knowledge is a barrier to application of ECS. Since pre-test counseling by a genetic counselor before ECS may not always be feasible, pre-test information may not be delivered by a trained genetic counselor. If clinicians are going to be the primary counselors, further education is necessary to improve their comfort and competence with this role.

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Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods

Cited by 8 publications

References 23 publications

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

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

Current attitudes and preconception towards expanded carrier screening in Eastern Chinese reproductive population

Public Knowledge about Monogenic Diseases and Attitudes Toward Expanded Carrier Screening in China

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