Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners

Delatycki, Martin B.; Laing, Nigel G.; Moore, Sarah; Emery, Jonathan D.; Archibald, Alison D; Massie, John; Kirk, Edwin P.

doi:10.31128/ajgp-10-18-4725

Cited by 29 publications

(35 citation statements)

References 14 publications

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“…16 The Melbourne program ceased in 2016 since it was considered that by the time most students will be planning a family, much broader screening will be available than the screening that was being offered. 2 CF carrier screening in people with no family history of the disorder began in Victoria in 2006 with screening offered pre and in the early stages of pregnancy, largely by obstetricians and general practitioners (GPs). 17 Up until that point, only prospective parents with a family history of CF could access testing.…”

Section: Australiamentioning

confidence: 99%

“…20 Between 2019 and 2021, there will be a government-funded trial of reproductive carrier screening for greater than 1000 genes in 10 000 couples Australia-wide. 2 Genes were selected based on the severity of conditions. The aim of this research project is to test the feasibility of a national, government-funded reproductive carrier screening program.…”

Section: Australiamentioning

confidence: 99%

“…It can be offered to individuals prior to forming a relationship such as through high school screening programs, to individuals prior to an arranged marriage such as through the Dor Yeshorim program, and to couples prior to becoming pregnant or in early pregnancy. 2 When both members of a couple are carriers of an autosomal recessive condition or a woman is a carrier an X-linked condition, there is an increased chance (generally one in four) of having an affected child. Couples with an increased risk have a number of reproductive options to avoid or prepare for having a child with that condition depending on their choices.…”

Section: Introductionmentioning

confidence: 99%

“…Such screening can be done prior to pregnancy or in the early stages of pregnancy. It can be offered to individuals prior to forming a relationship such as through high school screening programs, to individuals prior to an arranged marriage such as through the Dor Yeshorim program, and to couples prior to becoming pregnant or in early pregnancy . When both members of a couple are carriers of an autosomal recessive condition or a woman is a carrier an X‐linked condition, there is an increased chance (generally one in four) of having an affected child.…”

Section: Introductionmentioning

confidence: 99%

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International perspectives on the implementation of reproductive carrier screening

et al. 2019

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Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay‐Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X‐linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry‐based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

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Section: Australiamentioning

confidence: 99%

Section: Australiamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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International perspectives on the implementation of reproductive carrier screening

et al. 2019

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“…Delatycki and colleagues discuss genetic carrier screening to identify couples who are at increased risk of having a child with a rare, recessively inherited, genetic condition. 2 Mackenzie's Mission, a Medical Research Future Fund project, aims to screen 10,000 Australian couples for carrier status of roughly 500 genes, with the expectation of significant involvement by GPs. Polasek et al describe how common genetic variants that affect response to medications could be used to individualise prescribing.…”

mentioning

confidence: 99%

Preparing for the genomics era

Emery¹

2019

Aust J Gen Pract

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Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System

et al. 2022

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ImportanceReproductive genetic carrier screening can be performed prior to or during pregnancy to assess a reproductive couple’s risk of having a child with a recessively inherited disorder. Although professional societies endorse preconception screening as preferable to prenatal screening to allow for greater reproductive choice, implementation of preconception screening is challenging.ObjectiveTo determine how carrier screening timing varies by multilevel factors associated with health care delivery including patient, clinician, and location across a large integrated health care system.Design, Setting, and ParticipantsThis cross-sectional study used a mixed-methods approach including (1) quantitative analysis of multilevel factors associated with the timing of reproductive carrier screening and (2) qualitative analyses of data from interviews conducted with clinicians ordering carrier screenings. The setting was the Mass General Brigham, a large integrated health care system in the greater Boston, Massachusetts area. Participants included adult female patients who completed reproductive carrier screening performed by Myriad Women’s Health between October 1, 2018, to September 30, 2019.ExposuresSite of care (ordering clinical location and hospital affiliate), ordering clinician specialty, and patient characteristics, including age at date of test collection, self-reported race and ethnicity, primary insurance payor, and number of comorbidities.Main Outcomes and MeasuresThe primary outcome was the timing of carrier screening (preconception vs prenatal). A series of 4 multilevel logistic regression models were fitted to measure the relative contribution of site, clinician, and patient-level factors on the timing of screening. Interviews with ordering clinicians (N = 9) were analyzed using a framework approach to explore barriers to preconception screening.ResultsAmong 6509 adult female patients who completed carrier screenings, 770 (12%) were Asian, 352 (5%) were Hispanic, 640 (10%) were non-Hispanic Black, 3844 (59%) were non-Hispanic White, 858 (13%) were other or multiple races and ethnicities, and 2611 (40%) were aged 31 to 35 years; 4701 (63%) had prenatal screening and 2438 (37%) had preconception screening; screenings were ordered by 161 distinct clinicians across 32 clinical locations affiliated with 4 hospitals. In model 1, adjusted for hospital (fixed effect), clinic and clinician (random effects), 49% of the variability in timing was associated with clinician-level effects (intraclass correlation coefficient [ICC], 0.49) and 28% was associated with clinic-level effects (ICC, 0.28). Clinician specialty explained the greatest amount of variation in screening timing. Interviewed clinicians (N = 9) supported preconception screening but cited several barriers to offering population-based preconception screening.Conclusions and RelevanceIn this cross-sectional study, multilevel factors were associated with carrier screening timing. These findings suggest that increasing access to preconception screening may involve engaging specific medical specialties.

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Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners

Cited by 29 publications

References 14 publications

International perspectives on the implementation of reproductive carrier screening

International perspectives on the implementation of reproductive carrier screening

Preparing for the genomics era

Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System

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