Journal of Genetic Counseling

Steigerwald, Connolly G.; Bertolini, Carina; McElhiney, Martin; Bergner, Amanda L.; Harms, Matthew B.; Harrington, Elizabeth A.

doi: 10.1002/jgc4.1890pmid: 38477424

As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at‐risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community. We surveyed asymptomatic individuals at risk for inheriting an ALS‐associated gene mutation. The 80‐question survey was designed using a combination of validated measures (General Anxiety Disorder; FACToR; Decision Regret Scale) and original items. Ninety participants completed the survey, including those who completed predictive genetic testing (N = 42) and those who did not (N = 48). Gene positive individuals experienced greater negativity, uncertainty, and overall psychological impairment (p = 0.002; p < 0.001; p = 0.001). Individuals who had not undergone testing reported thinking about their risk multiple times per day and experiencing more decisional regret than those who tested (p = 0.006). In terms of decision‐making, being prepared for potential clinical drug trials was a more important potential benefit among those who underwent testing (p = 0.026). Participants valuing preparedness for clinical drug trials supports the concept that genetic testing for ALS will increase as research in gene‐targeted therapeutics progresses. This study describes factors relevant to the genetic testing decision‐making process and adaptation to results from the perspective of at‐risk individuals, which can ultimately guide genetic counseling practice in this population.

Arpone, Marta; Turbitt, Erin; McEwen, Alison

doi: 10.1002/jgc4.1884pmid: 38362950

Studies on the use of Race, Ethnicity, and Ancestry (REA) concepts and terms in genetic research are limited. We aimed to describe the collection, reporting, and use of REA data in genetic counseling research. We undertook a focused mapping review and synthesis of the Journal of Genetic Counseling 2021 publications. We used a mapping proforma based on the Race, Ethnicity, And Culture in Health checklist to extract data. Of the 177 screened articles, 132 met our inclusion criteria of reporting primary data about participants. The sample REA characteristics were described in 80 (61%) articles, with 6% providing a definition or conceptualization of the REA term/s used and 23% including a rationale for their study in terms of REA factors. Group labels were most often reported using population descriptors, such as “race,” “ethnicity,” “race/ethnicity,” and “ancestry.” Several group labels were used under different population descriptors. For instance, the group labels “White” and “Asian” were used under all population descriptors. Most studies (79%) ascertained REA characteristics by participants' self‐report. Three (15%) of the 20 qualitative studies mentioned the relevance of the interviewers' REA characteristics in relation to the participants' REA characteristics. Of the 55 quantitative studies, 19 (35%) used REA factors in the data analysis. Of the 80 articles describing the sample REA characteristics, 20% referred moderately or a great deal to any REA factors in the results interpretation, 46% acknowledged the REA factors in the study limitations, and 15% discussed the implications of REA reporting for genetic counseling practice. Our review documents extensive variation in how sample REA characteristics are described and used in genetic counseling research. Our findings provide a baseline against which to evaluate the effects of guidelines and recommendations for the collection, responsible use, and report of participants' REA characteristics in genetic counseling research.

Martin, Summer C.; Scott, Allison M.; Stone, Anne M.

doi: 10.1002/jgc4.1898pmid: 38623721

Inheriting a pathogenic variant in the BRCA1 or BRCA2 gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in‐depth interviews with 24 women who tested BRCA‐positive, we found that—consistent with the conceptualization of communication work articulated by Donovan‐Kicken et al. (2012) as an extension of the theory of illness trajectories (Corbin & Strauss, 1988)—the labor of communicating about BRCA genetic risk entails (a) duties, (b) challenges, (c) strategies, and (d) shared work. Within each category, our results illuminate particular characteristics of communication work for women who have tested BRCA‐positive, which are commonly tied to the profound health consequences that a pathogenic variant may have for them and, potentially, for their genetic relatives. Our findings offer useful theoretical implications regarding communication work in this context. Furthermore, our results yield valuable practical insight for genetic counselors and other health care professionals regarding the struggles that can accompany communication work for women who have tested BRCA‐positive as well as the strategies that participants reported using to manage or avoid these challenges.

doi: 10.1002/jgc4.1912pmid: N/A

Gallion, Tielle; Williams, Zachary J.; Niarchou, Maria; Duncan, Laura; Hooker, Gillian; Taylor, Kelly A.

doi: 10.1002/jgc4.1918pmid: 38795017

Genetic testing for autism has been a controversial topic within the autistic community. Opinions regarding the benefits, risks, and limitations of genetic testing often differ between autistic people, researchers, and healthcare providers. The present study sought to understand the beliefs, attitudes, and intentions to pursue genetic testing of autistic adults and compare perspectives of autistic people who have had genetic testing with those who have not. An international sample of 173 autistic adults (19 [11%] who had previously undergone autism‐related genetic testing) completed an online survey with questions assessing beliefs, attitudes, and intentions to pursue genetic testing. Beliefs and attitudes about genetic testing varied widely across the sample. Autistic individuals who had received prior genetic testing had much more positive beliefs about autism‐related genetic testing (d = 0.87, 95% CI [0.37, 1.36]) and attitudes toward genetic testing (d = 1.14, 95% CI [0.66, 1.61]) compared to those who had not received such testing, although there were no meaningful differences between those same groups regarding beliefs about genetic testing unrelated to autism (d = 0.02, 95% CI [−0.45, 0.49], p = 0.93). Intention to genetically test oneself or one's (hypothetical) children was also significantly predicted by autism‐specific beliefs, attitudes, and prior genetic testing status. A large majority of the sample (78.6%) also agreed that autistic individuals would benefit from contact with a genetic counselor in certain situations. These findings suggest that the autistic community does not have a singular view of genetic testing, and for those Autistic individuals who are interested in pursuing genetic testing for themselves or a family member, genetic counselors have the potential to play a key role in clinical care.

Nakamura, Haruna; Morinaga, Shoko; Tsuchiya, Kazuhiko; Sakoda, Yoko; Ogino, Mitsutoshi; Ueno, Sayaka; Tanino, Hirokazu; Kunihisa, Tomonari

doi: 10.1002/jgc4.1928pmid: 38852990

BRCA1/2 genetic testing has become clinically important in breast cancer care, but increasing demand may put a burden on the shortage of healthcare professionals. We performed a single‐center, pilot randomized controlled study to assess the effectiveness of employing a video educational tool that included standard pre‐test genetic counseling elements related to BRCA1/2. Patients with operable breast cancer who met the criteria for genetic testing based on age, sex, subtype, and family history were recruited. Sixty consenting participants were randomized 1:1 and placed in groups that received either traditional face‐to‐face pre‐test counseling or video‐viewing and face‐to‐face decisional support. To assess decisional conflict in the participants, surveys based on the Decisional Conflict Scale (DCS) were administered two times, once immediately after intervention and again 2–4 weeks later. The time taken for counseling and confirmation of whether the participants had undergone testing were also recorded. The difference in the total DCS scores between the two groups was not significantly different for either of the survey periods, and there was no significant difference in the number of participants who underwent testing (23/30 [76.7%] vs. 26/30 [86.7%]; p = 0.51). However, the “effective decision” subscale score was significantly higher in the video group 2–4 weeks after counseling (31.01 ± 16.82 vs. 21.43 ± 16.09; p = 0.04 [mean ± SD]). The time taken for counseling was significantly shorter in the video group (8.00 ± 4.5 vs. 27.00 ± 7.61 min; p < 0.001 [median ± SD]). Our findings indicate the potential benefit of the video educational tool for providing BRCA1/2‐related information. These tools may also enable healthcare professionals to spend more time supporting psychological issues. Notably, after some time, patients may question whether their decision was appropriate. Therefore, it is necessary to identify those in conflict and provide them with proper support.

Huisman, Lee‐Anna; Martin, Sheridan; Ewasiuk, Emma; McAdam, Alexa; Wood Lynes‐Ford, K’sana; McCormick, Rod; Arbour, Laura

doi: 10.1002/jgc4.1927pmid: 38926912

Long QT syndrome (LQTS), a rare cardiac condition that can lead to sudden death, is highly prevalent in First Nations communities of northern British Columbia. In the Gitxsan community of 5500, an estimated 1 in 125 individuals are affected, primarily due to the novel pathogenic variant p.V205M in KCNQ1. Over the past decade, more than 800 Gitxsan individuals received genetic testing and counseling for LQTS through a community‐based study. Despite the substantial research characterizing the biological underpinnings of LQTS, there are few studies exploring the lived experiences of families with LQTS, especially those of Indigenous peoples. The goal of this study was to gain a greater understanding of the impact of the genetic confirmation of LQTS in this community, and the impact the condition has on individuals, their families, and the community. A qualitative study was developed in consultation with a local research advisory board and a Talking Circle, a traditional Indigenous format for discussion, was held. Four people who belonged to the same kindred group attended the Talking Circle. This article presents the multigenerational impact that LQTS and genetic diagnosis have through the reflections of one Gitxsan family. LQTS affects identity and family relationships, including those between parents and children, siblings, and even extended family members. Laughter and humor played an important part in coping. The role of family relationships for this Gitxsan family was seen to be critical in managing an LQTS diagnosis. This multigenerational perspective provides key insights into family structure and dynamics which can inform genetic counseling and clinical care. As cultural safety is experienced and therefore defined by the person receiving services, listening to the perspectives and preferences of Indigenous peoples is essential to the delivery of culturally informed care.

Sanchez, Gina; Hashmi, S. Shahrukh; Bednar, Erica; Horvath, Sarah; Kumar, Bhavik; Sagaser, Katelynn; Singletary, Claire N.; Ramdaney, Aarti

doi: 10.1002/jgc4.1875pmid: 38410885

Genetic counselors (GCs) are trained to help individuals navigate the medical and psychological implications of genetic test results, familial conditions, and ultrasound anomalies. Therefore, familiarity with reproductive options, including abortion, is vital. However, previous studies have found gaps in GCs' knowledge regarding abortion care and there are currently no recommendations regarding abortion curriculum. This study aimed to assess the state of abortion curriculum in genetic counseling graduate programs in the United States and to examine and compare the satisfaction levels of program representatives and recent graduates. Program representatives and recent graduates were invited to complete an anonymous survey evaluating the abortion curriculum, satisfaction with said curriculum, and perceived preparedness to counsel on abortion. Quantitative data from 46 program representatives and 123 recent graduates were analyzed using descriptive statistics and appropriate statistical analyses, including the Mann–Whitney U‐test and the Kruskal–Wallis test. Large variability existed in the amount and types of abortion training. Results showed greater satisfaction and feelings of preparation to counsel on abortion in graduates whose program provided a dedicated abortion curriculum (p < 0.001, p = 0.005). In addition, graduates with abortion counseling experience felt less prepared to counsel on abortion than their programs believed them to be (p = 0.04). Graduates perceived procedural timing, facilitation of genetic testing, and resources/support desired by patients before, during, or after an abortion, to be the most important topics, although these were not included in all programs' curriculum. Program representatives and recent graduates alike noted that variability in clinical training is a barrier to abortion education. Our results demonstrate a need for curricular reform to reduce variability in training and ensure that all graduates receive the same foundational abortion education. Further research is needed to determine the scope of GCs in abortion care, as well as which topics and education formats are most helpful in graduate education.

doi: 10.1002/jgc4.70023pmid: N/A

Galada, Chelna; Blake, Alise K.; Dean, Lori Williamson; Rao, Smita K.

doi: 10.1002/jgc4.1893pmid: 38509810

Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID‐19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.S.‐based GCGP in 2021 or 2022 participated in this qualitative study (42% of the total enrolled) to understand their application experience. Cost, location of the program, and rapport during interviews were the most important factors identified by IAs to apply to and rank the GCGPs. Shadowing and volunteer experiences relevant to GC were cited as important for applicants to learn about a genetic counseling career, but many had challenges finding opportunities in their home countries. Unique logistical challenges in taking the GRE, transcript evaluation services, and standardized English proficiency tests were described. Although virtual interviews offered the same experience as domestic applicants, the time difference was a major challenge, requiring IAs to interview through the night, creating additional stressors. Nine of 12 were re‐applicants and shared that engaging with GCGPs early in the process was beneficial for improving applications and, at times, requesting waivers for transcript evaluation requirements and considering unique volunteering experiences. Participants suggested GCGPs can address barriers by providing more specific information on their websites as it pertains to IAs, and contact information for the international student office. Improving awareness of the applicants' backgrounds, home country experiences, and time zone differences would provide IAs with a more equitable application experience. Addressing these barriers could help promote diversity, equity, and inclusion allowing for more IAs and the growth of the genetic counseling profession.