Eight Genetic Counselors Discuss the Future of Genetic Counseling

6.30.2022

The COVID-19 pandemic marked a turning point across the health care landscape, and like many professions, genetic counseling is shifting in unexpected ways. NSGC spoke with eight genetic counselors to ask about changes they see on the horizon within their field, from access to technology to equity ...

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COVID‐19 vaccine hesitancy and acceptance among pregnant people contacting a teratogen information service

6.28.2022

Abstract

Pregnant people are at increased risk of severe illness from SARS-CoV-2 infection and are more likely to be admitted to an intensive care unit, be put on a mechanical ventilator, and die, if infected. Having COVID-19 during pregnancy also increases the risk of preterm delivery. Vaccination is a critical tool for controlling the COVID-19 pandemic; however, to date, just over 30% of pregnant people in the United States have been vaccinated. It is important to identify any barriers to acceptance of the COVID-19 vaccine among the pregnant population so that specific hesitancy concerns can be addressed. Our objective was to identify the proportion of pregnant people who are unsure or not planning to be vaccinated against COVID-19 and collect information about their reasons for hesitancy. A questionnaire examining views on COVID-19 vaccine interest was administered to 299 pregnant people who contacted MotherToBaby 3/1/21–7/23/21. Questions obtained information about the perception of COVID-19 risk in pregnancy, interest in receiving a COVID-19 vaccine while pregnant, and reasons for acceptance or hesitancy. Within the sample, 21% had already been vaccinated against COVID-19, 43% were planning to get vaccinated, 9% were not planning to receive the vaccine, and 27% were undecided. Women who were not planning to get vaccinated and those that were undecided both said their concern was ‘not enough safety information for pregnancy’. Individuals aged 18–25, those who made less than $50,000/year, and those who lived in the Northeast were more likely to be hesitant. Based on these data, continued efforts to collect and communicate high-quality and understandable information to pregnant people about vaccine safety should be a key priority in efforts to increase vaccine acceptance among this group.

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Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result

6.28.2022

Abstract

First-degree relatives of a proband with an inherited cardiac condition (ICC) are offered predictive genetic testing for the pathogenic or likely pathogenic (P/LP) cardiac gene variant (CGV) to clarify their risk for the familial condition. Relatives who test negative for a familial P/LP CGV typically do not require longitudinal cardiac surveillance. To our knowledge, no previous study has investigated adjustment to risk reduction and subsequent screening practices in genotype-negative relatives from an ICC population. We thus investigated risk perception and ongoing screening practices in genotype-negative adults who received cardiac genetic counseling. Correlations between clinical and demographic variables and risk perception and screening practices were also investigated. On average, participants (n = 71) reported a perceived 19.5% lifetime risk of developing the ICC in their family, despite their negative genetic test result. The majority (54%) of participants reported having undergone cardiac screening after disclosure of their negative result. There were no significant correlations between clinical and demographic variables and risk perception or screening practices. Furthermore, risk perception was not found to impact the likelihood of cardiac screening. These findings suggest that even with comprehensive cardiac genetic counseling, a proportion of this population did not accurately comprehend or recall their cardiac disease risk. Additional interventions beyond traditional result disclosure should be explored to help genotype-negative individuals adjust to their reduction in risk for a familial ICC.

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Characterization of variant reclassification and patient re‐contact in a cancer genetics clinic

6.28.2022

Abstract

Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re-contact are managed. This study aimed to describe the process of variant reclassification and subsequent patient re-contact at a comprehensive cancer genetic counseling service in a large metropolitan medical center with several statewide satellite locations. A retrospective chart review was performed to identify reclassified variants between 1/1/1997 and 12/1/2020. In total, 8.4% (211/2503) of variants were reclassified over the 24-year period, which includes multiple cases involving the same unique variant. Several variants underwent more than one reclassification, resulting in 232 total reclassifications among 194 individuals. Nearly all reclassifications were prompted by the laboratory (99.1%; 230/232) rather than the genetics clinic staff. Overall, 10.3% (24/232) of all reclassifications were upgrades, but only 9.1% (21/232) led to a change in management recommendations. The median time for variant reclassification was 1.7 years (interquartile range [IQR] = 0.8–3.2 years). There was no statistically significant difference in the time to reclassification for White patients (median = 1.6 years; IQR = 0.8–2.8 years) compared to non-White patients (median = 2.0 years; IQR = 0.9–3.7 years; Mann–Whitney U = 4,764.0, p = 0.066). Patient re-contact was attempted for 97.4% (226/232) of variants and was always performed by a genetic counselor, most often through a mailed letter (85.8%, 194/226). Specifically for reclassifications that led to a change in management recommendations, re-contact was always attempted, most often through combined telephone and mailed letter (95.2%; 20/21). Overall, the median time from reclassification to attempted patient re-contact was 13 days (range: 0–589 days). The characterization of this clinic's reclassification and re-contact procedures can serve as an example for other genetics clinics trying to incorporate re-contact into their workflow.

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Queer Erasure in Standards of Professionalism

6.27.2022

June is Pride Month, a time to both celebrate LGBTQIA+ people and bring attention to systems of queer oppression which need to be dismantled. One straightforward show of support for our queer peers is the interrogation of standards of ‘professionalism’ in our field. Genetic counselor Ambreen Khan ...

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Access to Reproductive Healthcare

6.24.2022

NSGC supports the ability of genetic counselors to communicate accurate, unbiased information about the complete range of reproductive options.

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Stepping into our New Strategic Plan Pillar VI: Professional Excellence

6.24.2022

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Implementing genomics in the neonatal period: An assessment of parental decision making and anxiety

6.22.2022

Abstract

As uptake of rapid genome sequencing (GS) in the neonatal period steadily increases, a clinical genetics service that is optimized to the needs of parents becomes increasingly important. We aimed to investigate factors that influence decision making about rapid GS by parents of infants admitted to neonatal intensive care units (NICU) and explore their experiences of decisional conflict and anxiety during this time. Parents of neonates suspected of having a genetic disorder and offered rapid GS in the NICU completed a questionnaire measuring experience with GS counseling, decisional conflict, and anxiety level. Our results demonstrate that despite a largely positive GS experience (70%; 21/30) among the survey respondents, 50.0% (14/28) experienced moderate to severe anxiety measured using the GAD-7 scale, and 34.6% (9/26) experienced decisional conflict measured using the SURE scale. We also showed that prematurity may be a modifier of anxiety in this group of parents and although not statistically significant, distance lived away from the hospital site could have practical significance. Open-ended responses to survey questions highlighted that feeling overwhelmed, the types of engagements parents had with healthcare providers, and the timing of information provision also influenced parental decision making in this setting. We suggest that the GAD-7 scale for generalized anxiety and SURE scale for decisional conflict could be incorporated by genetic counselors into routine care of parents of neonates who have been offered rapid GS to identify those who may need additional support (resources, information, or psychological). These tools may inform ways that communication between patients and providers can be improved and enhanced and clinical genetics services in the NICU can be optimized. We suggest that integrating genetic counselors into the NICU care team could increase access for this population and ensure delivery of optimized patient education and counseling.

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Characteristics associated with the perceived likelihood to become parents among young adults with sickle cell disease or sickle cell trait in the USA

6.20.2022

Abstract

Individuals with sickle cell disease (SCD) and individuals with sickle cell trait (SCT) have different health trajectories, but it is unknown whether sociodemographic and clinical characteristics are associated with their likelihood to be a parent. The purpose of this study was to examine the sociodemographic and clinical characteristics associated with perceived likelihood-to-parent among a cohort of young adults with SCD or SCT in the USA. The participants were 234 young adults (82 males, 152 females) who had either SCD (n = 138) or SCT (n = 96). The average age was 25.9 years (SD = 4.9), and most participants (87%) were single. Study participants completed the likelihood-to-parent item (0–4 scale) included in the valid and reliable Sickle Cell Reproductive Health Knowledge Parenting Intent and Behavior Questionnaire (SCKnowIQ). The mean likelihood-to-parent score was M = 2.3 (SD = 1.1) and 41% indicated that they were ‘very’ or ‘extremely’ likely to be a parent. Bivariate analysis showed that likelihood-to-parent was associated with the participant's sickle cell genotype (p = .03), age (p = .003), educational level (p = .04), income (p = .01), employment (p = .04), number of children (p < .001), health insurance (p = .02), and influenced by others (p < .001). In multiple regression analysis, participants reported higher likelihood-to-parent scores if they had at most 2 children (p = .03), higher income (p = .03), had no insurance (p = .01), and reported higher levels of being influenced by others (p = .001). Additional research is needed to confirm these findings in larger representative samples with more young adult males and to understand the likelihood to become parents over time by implementing longitudinal studies in the SCD and SCT populations. Such research is needed to guide appropriate education and genetic counseling for reproductive decision-making among young adults with SCD or SCT.

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Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans

6.20.2022

Abstract

Continuous advances in genetic testing methodologies and an increased understanding of the genetic mechanisms of diseases have fueled genetic testing utilization across health care specialties. To our knowledge, national trends in the ordering of genetic testing have not been studied broadly across clinical indications, testing methodologies, and ordering provider specialties. We performed a retrospective analysis of 4,499 complete prior authorization requests for molecular genetic testing submitted to four regional health plans’ commercial lines of business between May 1, 2019 and May 31, 2019. Ordering providers were characterized by their certification(s) and specialty of practice. Among 4,499 genetic testing requests, 92% were ordered by non-genetics providers. Obstetrician/gynecology (OBGYN) (63%), oncology (15%), and genetics (8%) providers ordered genetic testing most frequently. Reproductive, hereditary cancer, and tumor testing were the most frequently ordered genetic tests. Seventy-nine percent of all prior authorization requests were approved. When analyzing complex genetic testing requests, we found that testing ordered by genetics providers was more likely to be approved based on health plan policy than testing ordered by non-genetics providers. Our results suggest that health care providers across multiple medical specialties may benefit from involvement of genetics specialists in decision-making regarding molecular tests.

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