No longer “non-traditional”: Genetic counselors' perceptions towards laboratory and industry roles

9.22.2023

A growing percentage of genetic counselors are employed in roles that do not involve direct patient care, commonly in commercial diagnostic laboratories. This study aimed to assess characteristics of laboratory and industry (LI) roles and perceptions of the genetic counseling community's views towards such roles. Members of NSGC and ABGC were invited to participate in this study. Data analysis included descriptive and inferential statistics and select participant quotes are included to highlight key points identified by statistical analyses. Three hundred twenty-six genetic counselors who self-identified as currently or previously working within an LI role responded to the survey. Over 40% of participants reported feeling that they were not perceived positively by colleagues outside of LI settings, and 54% felt that GC colleagues in non-LI roles provided mostly negative commentary about LI GC roles. Over 90% of individuals felt that their employer was a factor in the way they were perceived by others and that this factor carried a bigger weight than job title, work setting, or even professional responsibilities. Qualitative responses from open-ended text questions suggest that while perceptions toward LI roles have improved over time, commentary regarding the “dark side” of genetic counseling persists. To promote the continued, unified growth of the genetic counseling profession and other healthcare professions, it is necessary to address this source of intra-professional conflict.

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Comparison of genetic testing documentation between genetic counselors and non-genetic counselors

9.22.2023

Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequency of documentation of pre- and post-test counseling of genetic testing between GCs and genetics providers (GPs), and GCs and non-genetics providers (NGPs). A retrospective chart review of 467 charts from patients who had genetic testing ordered between July 2016 and June 2018 at a primarily pediatric institution was conducted. GCs were involved for 223 charts (GC group), and not involved for 244 (non-GC group). The non-GC group was further stratified into patient charts with Genetics Providers (GP group) (n = 100) involved and those with Non-Genetics Providers (NGP group) (n = 144) involved. Categorical, binomial, pre-test variables (counseling, test description, results possibilities, insurance coverage, and cost) and categorical, binomial, post-test variables (results disclosure, family testing recommendations, recurrence risk, and provided resources) were collected and compared using Fisher's exact test (p < 0.005). With the exception of test description, documentation for all variables occurred more frequently in the GC group compared to the NGP group (all p < 0.001). Documentation for the majority of variables also occurred more frequently in the GC group compared to the GP group (p < 0.005), with the exceptions of overall pre-test counseling and family testing recommendations. GC involvement was associated with increased documentation of most pre- and post-test genetic counseling variables. With increased emphasis placed on transparency, accurateness, and access for patients of the EMR, in part due to the passage of the CARES Act, documentation should reflect the content of counseling provided. The cause of the documentation discrepancy identified may have differing effects on patient care and provider education.

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The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland

9.22.2023

Families in Ireland often wait over 1 year to see a genetic counselor (GC). This qualitative study aimed to explore the views of families who received a diagnosis of 22q11DS in Ireland regarding the need for timely access to genetic counseling at the point of diagnosis. Twenty participants were recruited through the ‘22q Ireland’ support group, giving a response rate of approximately 10% of the total support group members. Semi-structured interviews were conducted online and by telephone which explored experiences of receiving diagnoses, medical care, genetic counseling, mental health, and coping with the diagnosis. Interviews were transcribed verbatim and analyzed using thematic analysis. The experiences of 20 participants were classified into five main themes: Receiving Diagnosis, Interactions with Healthcare Professionals (HCPs, excluding GCs), Medical Care, Information, and Impact of Condition. Participants reported receiving diagnoses for their children in a sub-optimal manner due to inappropriate settings and insufficient information, support, and pre-test counseling. Parents reported feeling responsible for managing their child's complex and fragmented medical care. Participants reported insufficient empathy and little awareness of 22q11DS among HCPs. Participants perceived genetic counseling to be associated with family planning and reported delayed, if any, access to services. Mental health was a particular worry among participants. Conferences about 22q11DS are the main source of information for parents. Participants reported a range of emotions after diagnosis and described the family impact. The findings suggest both an association between HCPs' poor understanding of 22q11DS and the perceived lack of empathy from HCPs and fragmented medical care. There is an identified need for advocacy of the GC profession in Ireland to support these families. Increased awareness of 22q11DS among HCPs and the development of a coordinated care pathway for 22q11DS, with timely access to genetic counseling, may improve care and lead to better outcomes.

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Elective genetic testing: Genetics professionals’ perspectives and practices

9.22.2023

Elective genetic testing (EGT) to identify disease risk in individuals who may or may not meet clinical criteria for testing is increasingly being offered in clinical practice. However, little is known about how EGT is currently implemented and how genetics professionals perceive this type of testing. We conducted a mixed-methods survey study to evaluate genetics professionals' perspectives and attitudes about EGT and describe the current landscape of EGT practices in the United States (U.S.) and Canada. Six clinical geneticists and 131 genetic counselors responded to the online survey, among whom 44% reported offering EGT in their practice. Over 84% of survey respondents agreed that EGT may improve health outcomes and understanding of genotype–phenotype correlations, and 85% agreed that potential risks include result misinterpretation and contribution to economic health disparities. Though most respondents felt comfortable providing pretest (77%) and post-test (86%) counseling for EGT, lack of provider resources (such as time and personnel) and prioritization of diagnostic testing were cited most frequently in free-text responses as reasons for not offering EGT. Of those offering EGT, 88% reported positive overall experiences. Qualitative analysis of open-ended questions identified benefits of EGT as expanding access to genetic testing, providing potential health benefits, and providing psychological benefits for patients. Disadvantages included prohibitive costs, limited clinical utility, and strain on resources. Overall, we found that genetics providers perceive both potential benefits and harms of EGT and that those offering this testing had generally positive experiences, although ethical reservations and practical limitations exist.

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Reproductive deliberation: Supporting autonomous decision making in prenatal genetic counseling

9.22.2023

As both the scope and popularity of non-invasive prenatal testing (NIPT) have expanded, debate has emerged about the extent to which this test enhances or undermines reproductive autonomy. Genetic counseling is crucial to support autonomy in the context of making complex and value-laden decisions about reproductive care following high-chance results from NIPT. Two models of post-test prenatal genetic counseling have been proposed; the first of these, non-directive counseling, is the predominant model, while shared decision making is an alternative model deriving from patient care for chronic conditions. In this paper, we argue that neither of these approaches is adequate for counseling after NIPT to support reproductive autonomy. Instead, then, we propose an alternative approach that we call reproductive deliberation. This approach to prenatal genetic counseling simultaneously recognizes the relationality of the counseling encounter and supports the decision making capacity and decisional responsibility of the pregnant person.

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Prenatal genetic counseling in states hostile to abortion in the final days of Roe v. Wade: A qualitative study

9.22.2023

Genetic counselors (GCs) play an important role in providing and coordinating care for patients considering abortion care secondary to fetal anomaly and/or genetic diagnosis. In the United States, restrictive legislation reducing access to abortion has increased dramatically in recent years. In Texas, an unusual vigilante-style law went into effect in September 2021, effectively banning all abortion after 6-week gestation; this more restrictive legislation was widely seen as a harbinger of things to come. To assess the impact of evolving abortion restrictions on genetic counseling practice and patient care, we conducted semistructured interviews with 34 GCs practicing in states characterized as hostile to abortion using standards developed by the Guttmacher Institute and analyzed using Dedoose software. All interviews took place prior to the June 2022 Supreme Court decision overturning Roe v. Wade. Our qualitative study offered some support for earlier work, suggesting that time pressure created by gestational age limits and the potential need for patients to travel out of state for abortion care was the most significant impact on GC practice. However, GCs practicing in Texas and other highly restrictive states were more likely to report that legal uncertainty had a greater impact, often affecting their ability to counsel patients. GCs in Texas also emphasized that institutional guidance was helpful and that a lack of institutional guidance hindered patient care. With the Supreme Court decision in June 2022 overturning the right to abortion established under Roe v. Wade, many more GCs are likely to practice in states where abortion is restricted or banned. Our study suggests that impediments to counseling may be underappreciated in the changing landscape of abortion law.

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Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors

9.22.2023

Polygenic scores (PGS) are primed for use in personalized risk assessments for common, complex conditions and population health screening. Although there is growing evidence supporting the clinical validity of these scores in certain diseases, presently, there is no consensus on best practices for constructing PGS or demonstrated clinical utility in practice. Despite these evidence gaps, individuals can access their PGS information through commercial entities, research programs, and clinical programs. This prompts the immediate need for educational resources for clinicians encountering PGS information in clinical practice. This practice resource is intended to increase genetic counselors' and other healthcare providers' understanding and comfort with PGS used in personalized risk assessments. Drawing on best practices in clinical genomics, we discuss the unique considerations for polygenic-based (1) testing, (2) clinical genetic counseling, and (3) translation to population health services. This practice resource outlines the emerging uses of PGS, as well as the critical limitations of this technology that need to be addressed before wide-scale implementation.

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Barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK)

9.22.2023

Evidence suggests that although Black African women have the lowest incidence of breast and ovarian cancer, they have the highest mortality rate and low rates of uptake for cancer screening services for these conditions in the United Kingdom (UK). This study aimed to explore the perceived barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK). We conducted a qualitative study that included one face-to-face and five telephone focus group discussions. Consistent with the health belief model, a focus group discussion guide was developed. A total of 24 participants, aged 23–57 who self-identified as Black African women and who were English speakers residing in Luton, took part in the focus group discussions. Purposive and snowballing sampling were used to recruit the participants for this study. The focus group discussions were recorded, transcribed per verbatim, coded and analyzed using an inductive thematic analysis approach, and the findings were classified. Nine themes emerged from the narratives obtained including six barriers and three facilitators. Barriers to genetic testing included (1) Cost and affordability, (2) Lack of knowledge, awareness, and family health history knowledge, (3) Language barrier, immigration, and distrust in western healthcare services, (4) Fear, (5) Cultural, religious, and intergenerational views and perceptions, and (6) Eligibility for genetic testing for the BRCA1/2 pathogenic variants and a lack of referral to specialist genetic clinics. Facilitators to genetic testing included (7) Availability of tests cost-free under the National Health Service (NHS) (8) Family members' health and (9) Awareness and education on genetic testing. The barriers and facilitators identified could enable policy makers and healthcare services alike to gain a better understanding of the factors influencing Black African women's decision-making process toward genetic testing. Ultimately, this work can inform interventions aiming to increase the uptake of genetic testing among this group.

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Ciencia, Genética, y ¿Desinformación?: A content analysis of genetic testing coverage from US Spanish-language news media

9.22.2023

Genetic testing (GT) has become ubiquitous in the United States, either in clinical or direct-to-consumer markets. White and English-speaking populations have primarily benefited from this new technology, leaving other groups, like Hispanic populations, behind. Explanations for this disparity has cited a lack of awareness and knowledge of genetic testing purposes. Science communication from English-language media play an important role in setting initial attitudes and influencing decision-making for audiences. However, Spanish-language media have virtually no research published on documented potential effects for GT utilization despite the continued growth of Hispanic Spanish-speaking groups in the United States. Thus, this study characterized coverage of GT from two of the most prominent US Spanish-language media outlets, Telemundo and Univision. Over a 12-year time period, we identified 235 written articles of GT, mainly focusing on forensics applications, followed by gossip and health. There were 292 sources referenced across all 235 articles drawing from governmental agencies or officials, other news agencies, and medical institutions or officials. The findings suggest that coverage of GT among Spanish-language news outlets is limited. When Spanish-language news outlets do cover GT, they focus on aspects of intrigue or entertainment more than demystifying and explaining GT. Stories tend to cite other published articles, with author attribution often missing, leading to questions of comfort of Spanish-media to cover these topics. Further, the publishing process may lead to confusion of the purpose of genetic testing for health purposes and may bias Spanish-speaking groups towards genetic testing for health purposes. Thus, reconciliation and education initiatives around genetic testing purposes are needed for Spanish-speaking communities from not only media, but also genetics providers and institutions.

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The utilization of genetic counselors by patient support groups

9.22.2023

The theoretical benefits of collaboration between patient support groups and genetic counselors have been discussed in the literature. However, no study has quantified the rate or ways that support groups utilize genetic counselors. This study surveyed one person in a leadership role at genetic support organizations to determine how many of the organizations have a relationship with genetic counselors, their utilization of genetic counselors, and their satisfaction with that relationship. It was found that 64.8% of organizations had a relationship with genetic counselors. Relationships were more likely to exist when organizations had full-time workers, had a primary focus on research, or offered a number and variety of services to members. Ways in which organizations utilized genetic counselors included as speakers at conferences, answering patient inquiries, and serving on expert panels. These relationships were supported through funding, networking, and patients connecting the two parties. Overall, representatives from organizations that had a relationship of any sort with genetic counselors were more likely to indicate satisfaction with that relationship than dissatisfaction (χ²(4, n = 89) = 45.053, p < 0.001). Even so, many respondents indicated that they wanted to continue to grow their relationship with genetic counselors but were hindered by the lack of funding or access to genetic counselors who could be engaged in their cause. Thus, while relationships and satisfaction with the relationship to genetic counselors were generally high, this study highlights access, outreach, and funding as areas of focus to improve utilization of genetic counselors in the support group sector.

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