Expanded carrier screening in an infertile population: how often is clinical decision making affected?

Franasiak, Jason M.; Olcha, Meir; Bergh, Paul A.; Hong, K.H.; Werner, M.D.; Forman, Eric J.; Zimmerman, Ryan M.; Scott, Richard T.

doi:10.1038/gim.2016.8

Cited by 46 publications

(37 citation statements)

References 23 publications

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“…In total 8 couples were identified as at-risk carriers and all elected to pursue PGD as part of their IVF treatment, indicating that the results of the carrier screening affected clinical decision making in all cases, though the authors note that not all of the couples followed through with their planned treatment. 14 The purpose of this study is to learn about the reproductive decisions of ARC as identified by ECS from a nationwide population. This paper will describe the experience of ARC after they received their ECS results, characterize their reproductive decisions, and identify factors associated with their decision making.…”

Section: Introductionmentioning

confidence: 99%

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Goldberg¹,

Haque²,

Lazarin³

et al. 2016

Preprint

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Purpose:Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes for determining reproductive risk. Data on clinical utility of screening conditions beyond professional guidelines is scarce. Methods:Individuals underwent ECS for up to 110 genes. 537 at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Results:64 eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n=28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. 29% (n=13) were not planning to alter reproductive decisions. The remaining 9% (n=4) of responses were unclear.Of 19 pregnant respondents, 42% (n=8) elected PNDx, 11% (n=2) planned amniocentesis but miscarried, and 47% (n=9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. 2 of 3 affected pregnancies were terminated.Disease severity was found to have significant association (p=0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p=0.284). Conclusion:Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.

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Section: Introductionmentioning

confidence: 99%

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Goldberg¹,

Haque²,

Lazarin³

et al. 2016

Preprint

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show abstract

“…As it is a new technology focusing on individually rare conditions, clinical outcome data on ECS are largely lacking. However, emerging evidence suggests that ECS significantly affects treatment options for patients undergoing treatment for infertility . Of 3738 couples (6643 individuals) screened, 25.1% of individuals were found to carry at least one pathogenic mutation, and eight (0.21%) of the couples were found to be carriers of the same genetic conditions not detectable by existing screening programmes.…”

Section: Disclosure Of Interestsmentioning

confidence: 99%

“…However, emerging evidence suggests that ECS significantly affects treatment options for patients undergoing treatment for infertility. 6 Of 3738 couples (6643 individuals) screened, 25.1% of individuals were found to carry at least one pathogenic mutation, and eight (0.21%) of the couples were found to be carriers of the same genetic conditions not detectable by existing screening programmes. In their study, Martin et al 5 found that 5% of couples were carriers of the same genetic disease which affected reproductive choices.…”

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confidence: 99%

Obstetricians should get ready for expanded carrier screening

Lau¹

2016

BJOG

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“…Genetic testing may be offered for embryos to screen for aneuploidy or to identify familial mutations causing specific genetic conditions (Brezina & Kutteh, 2015;Goldman, Nazem, Berkeley, Palter, & Grifo, 2016;Harton et al, 2013;Lee et al, 2015). Preconception carrier screening may also be offered to patients and gamete donors prior to in vitro fertilization (IVF; Franasiak et al, 2016;Romero, Rink, Biggio, & Saller, 2017). Infertility GCs counsel patients undergoing IVF about these types of genetic tests (Franasiak et al, 2016;Goldman et al, 2016), which may cause patients and providers to reflect on the ethical and moral implications of using genetic testing to decide which embryos to select for embryo transfer (Brezina & Kutteh, 2015).…”

mentioning

confidence: 99%

“…Preconception carrier screening may also be offered to patients and gamete donors prior to in vitro fertilization (IVF; Franasiak et al, 2016;Romero, Rink, Biggio, & Saller, 2017). Infertility GCs counsel patients undergoing IVF about these types of genetic tests (Franasiak et al, 2016;Goldman et al, 2016), which may cause patients and providers to reflect on the ethical and moral implications of using genetic testing to decide which embryos to select for embryo transfer (Brezina & Kutteh, 2015).…”

mentioning

confidence: 99%

Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives

Liker

Black²,

Weil

et al. 2019

Journal of Genetic Counseling

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Infertility genetic counselors (GCs) work with patients struggling to become pregnant who desire genetic testing of embryos and preconception genetic testing or carrier screening. Because personal and professional challenges have not been examined in this relatively new genetic counseling specialty, we investigated the difficulties infertility GCs face in their professional roles. Past and present infertility GCs in patient‐facing roles were recruited through the National Society of Genetic Counselors. Purposive sampling ensured participants were diverse in clinical setting, reproductive history, and other demographics. Nineteen participants completed a semi‐structured interview, at which time data saturation occurred. Thematic analysis revealed infertility GCs consider their patients more emotionally stressed than patients in other specialties. Infertility GCs relate easily to patients, build long‐term patient relationships, and feel invested in the reproductive successes of patients. Participants reported heightened concern for their own fertility, leading to high personal uptake of preconception genetic and fertility tests. Participants described discomfort when counseling while visibly pregnant and reluctance to disclose their own reproductive histories. Further research is needed on the complex interactions of GCs' personal and professional lives. Peer support groups and professional dialogue about the personal effects of the role may be beneficial for infertility GCs.

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Expanded carrier screening in an infertile population: how often is clinical decision making affected?

Cited by 46 publications

References 23 publications

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Obstetricians should get ready for expanded carrier screening

Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives

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