Reproductive male partner testing when the female is identified to be a genetic disease carrier

Abstract

Objective To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand reasons for declining testing (uptake rate). Methods A retrospective chart review of 513 female patients seen at Rutgers‐Robert Wood Johnson Medical School found to be carriers through expanded carrier screening (ECS) panels. The aims of this study were to determine how often their male partner chose testing, reasons for declining and the type of methodology chosen for their screening. Results Male partner uptake rate was 77%. We identified that the most significant barrier to male partner testing is female patients not following up on their own carrier screening results, thus missing the opportunity for partner testing. When male partners were provided options for testing, the most reported reason for declining is the belief it would have no impact on pregnancy management (20%). A carrier couple rate of 8.3% was identified of partners tested. Conclusion Despite a relatively high male testing uptake rate, a quarter of carrier females did not proceed with testing their partner. To ascertain fetal risk, results for both parents is necessary. Pretest counseling should stress need for potential male partner follow‐up testing.

Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples

“…protocol for arranging posttest counseling appointments, drawing the partner's blood on the day of the follow-up visit, and offering free or reduced-cost testing in many cases. 12 In our study, high compliance in the tandem and tandem reflex groups translated into a higher percentage of identified ARCs compared to the sequential group, a result additionally demonstrated by modeling data.…”

“…7 Male partners have also reported the belief that results would not impact pregnancy management, not wanting to know their carrier status, and concern about the cost and insurance coverage of screening. 12,13 A recent study's comparatively high frequency of compliance (77%) was attributed to the center's ARJUNAN ET AL.…”

“…7 Male partners have also reported the belief that results would not impact pregnancy management, not wanting to know their carrier status, and concern about the cost and insurance coverage of screening. 12,13 A recent study's comparatively high frequency of compliance (77%) was attributed to the center's protocol for arranging posttest counseling appointments, drawing the partner's blood on the day of the follow-up visit, and offering free or reduced-cost testing in many cases. 12 In our study, high compliance in the tandem and tandem reflex groups translated into a higher percentage of identified ARCs compared to the sequential group, a result additionally demonstrated by modeling data.…”

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

“…[53][54][55][56]80,89 Time points of measurement were also variable. A single time point was assessed by most studies (n = 41, 85%) and included audit data from databases between 1-30 years since screening (n = 34, 83%), 29,30,[32][33][34][35][36]38,40,42,[47][48][49]52,57,60,61,[63][64][65][67][68][69]73,74,78,81,[83][84][85][86][87][88]90,91,93 patient-reported outcomes at pre-test counselling after the decision to accept or decline was made (n = 3, 7%), 75,76,82 after maternal results but before partner results (n = 1, 2%), 39 and after results between 1-2 years since screening (n = 3, 7%). 46,51,…”

Reflex single-gene non-invasive prenatal testing significantly increases the cost-effectiveness of carrier screening

“…The traditional carrier screen base scenario was developed from the standard workflow typically carried out in obstetric clinics in the US. We did not account for the concurrent screening model where the mother and father of the pregnancy are tested simultaneously, as this model is not commonly used in obstetric clinics [9][10][11][12] . The carrier screen with reflex sgNIPT workflow (reflex sgNIPT scenario) was developed from the standard carrier screening workflow in obstetric clinics.…”