Equitable delivery of expanded genetic technologies: Considerations for prenatal and reproductive care

Adams, April; Jumah, Naana Afua; Okun, Nanette; Bonham, Vence L.

doi:10.1002/pd.6338

Cited by 3 publications

(4 citation statements)

References 90 publications

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“… 2 However, it is unlikely that such centralization will be feasible as ES becomes more widely available. Inequitable access to genomic medicine including prenatal diagnosis and therapy continues to be a concern 14 , 15 given disparate insurance coverage, and uptake of ES demonstrates similar access disparities to those reported with the rollout of other technologies, such as cell-free DNA screening. 16 Factors outside the immediate patient-care realm, such as payers' willingness to cover ES, are also important considerations as clinical use of these tests increases.…”

Section: Introductionmentioning

confidence: 99%

Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Sahin‐Hodoglugil,

Lianoglou,

Ackerman

et al. 2023

Prenatal Diagnosis

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ObjectiveThere is increasing evidence supporting the clinical utility of next generation sequencing for identifying fetal genetic disorders. However, there are limited data on the demand for and accessibility of these tests, as well as payer coverage in the prenatal context. We sought to identify clinician perspectives on the utility of prenatal exome sequencing (ES) and on equitable access to genomic technologies for the care of pregnancies complicated by fetal structural anomalies.MethodWe conducted two focus group discussions and six interviews with a total of 13 clinicians (11 genetic counselors; 2 Maternal Fetal Medicine/Geneticists) from U.S. academic centers and community clinics.ResultsParticipants strongly supported ES for prenatal diagnostic testing in pregnancies with fetal structural anomalies. Participants emphasized the value of prenatal ES as an opportunity for a continuum of care before, during, and after a pregnancy, not solely as informing decisions about abortions. Cost and coverage of the test was the main access barrier, and research was the main pathway to access ES in academic centers.ConclusionFurther integrating the perspectives of additional key stakeholders are important for understanding clinical utility, developing policies and practices to address access barriers, and assuring equitable provision of prenatal diagnostic testing.

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Section: Introductionmentioning

confidence: 99%

Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Sahin‐Hodoglugil,

Lianoglou,

Ackerman

et al. 2023

Prenatal Diagnosis

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“…In addition, healthcare inequities may be exacerbated by this traditional approach to carrier screening as many people lack access to preconception healthcare, and underserved populations are those in which reproductive partners may be least likely to undergo carrier screening. [6][7][8][9][10][11] The introduction of carrier screening with reflex to single-gene noninvasive prenatal testing (sgNIPT) has the potential to resolve many of the limitations of traditional carrier screening. When a pregnant person is identified to be a carrier of one or more conditions, sgNIPT evaluates fetal cell-free DNA (cfDNA) to determine whether the pregnant person's pathogenic variant was inherited by the fetus and-via next-generation sequencing (NGS) of exonsdetects pathogenic variants inherited from the reproductive partner.…”

Section: Introductionmentioning

confidence: 99%

“…As a result, reproductive management decisions are made with incomplete information. In addition, healthcare inequities may be exacerbated by this traditional approach to carrier screening as many people lack access to preconception healthcare, and underserved populations are those in which reproductive partners may be least likely to undergo carrier screening 6–11 …”

Section: Introductionmentioning

confidence: 99%

Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting

Wynn,

Hoskovec,

Carter

et al. 2023

Prenatal Diagnosis

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ObjectiveCarrier screening with reflex to single‐gene noninvasive prenatal testing (sgNIPT) is an alternative approach for identifying pregnancies at risk for inherited autosomal recessive conditions without the need for a sample from the reproductive partner. This study is the largest clinical validation of this approach in a general population setting.MethodsThe clinical performance of carrier screening with reflex to sgNIPT for cystic fibrosis, spinal muscular atrophy, alpha thalassemias, and beta hemoglobinopathies was assessed by collecting pregnancy outcome data on patients who underwent this testing and comparing the neonatal outcome to the assay‐predicted fetal risk.ResultsOf 42,067 pregnant individuals who underwent screening, 7538 carriers (17.9%) had reflex sgNIPT, and neonatal or fetal outcomes were obtained for 528 cases, including 25 affected pregnancies. Outcomes demonstrated high concordance with sgNIPT, for example, all pregnancies with 9 in 10 personalized fetal risk results were affected (positive predictive value (PPV) of 100% for the sub‐group) and the sgNIPT assay showed a sensitivity of 96.0% (95% CI: 79.65%–99.90%), specificity of 95.2% (95% CI: 92.98%–96.92%), average PPV of 50.0% (95% CI: 35.23%–64.77%), and negative predictive value (NPV) of 99.8% (95% CI: 98.84%–99.99%). The end‐to‐end performance of carrier screening with reflex to sgNIPT was calculated to have a sensitivity of 92.4% and specificity of 99.9%, which are unaffected by partner carrier screening or misattributed paternity unlike a traditional carrier screening workflow, which has a 35% sensitivity and a maximum of 25% PPV (1 in 4) in a real‐life setting.ConclusionThis study builds upon earlier findings to confirm that carrier testing with reflex to sgNIPT is highly accurate for general population screening. Given this high accuracy and an NPV of 99.8%, this workflow should be considered as an option for most of the general pregnant population. When the biological partner sample is unavailable, this workflow should be recommended as the first‐line approach.

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“…The highlight of the meeting was a session on the challenges faced regarding delivering prenatal care to underserved areas, both within high income and low middle income countries. Many aspects were discussed and the speakers have summarized the challenges in a paper published in this issue demonstrating how, despite available improving technologies, there is a widening gulf to access to these technologies 4 . This topic has sparked further discussion at ISPD and members can anticipate further discussion in Edinburgh in June, where scholarships are on offer for delegates from low middle income countries to help encourage dissemination and knowledge transfer.…”

mentioning

confidence: 99%

Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022

Okun

Wilson

2023

Prenatal Diagnosis

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Equitable delivery of expanded genetic technologies: Considerations for prenatal and reproductive care

Cited by 3 publications

References 90 publications

Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting

Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022

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