Telehealth in Genetics: The Genetic Counselor Perspective on the Utility of Telehealth in Response to the COVID-19 Pandemic in Wisconsin.

BACKGROUND: Due to the COVID-19 pandemic, many genetics clinics across the country were prompted to integrate telephone visits and videoconferencing into their practice to promote the safety of patients and clinic staff members. Our study examined providers' perspectives on the utility and effectiveness of these telehealth-based clinic visits in response to the COVID-19 pandemic in Wisconsin. METHODS: An anonymous Qualtrics survey was distributed via email in October 2020 to all members of the Wisconsin Genetic Systems Integration Hub and the Wisconsin Genetic Counselor Association. Current clinical genetic providers were eligible to participate in the survey. The survey assessed providers' experiences and perceptions toward utilizing telehealth in delivering clinical genetic services to their patients during the pandemic. RESULTS: Forty-seven currently practicing clinical genetic counselors in Wisconsin either partially or fully completed the survey. Nearly all respondents somewhat (23%) or strongly (75%) wanted to incorporate telehealth in the future, primarily because of perceived improvements in clinic functioning. Patients with suboptimal telecommunications capacities were considered the most challenging aspect of telehealth, and better technology support was the most frequently cited strategy for addressing current telehealth limitations. CONCLUSION: Clinical genetic counselors in Wisconsin generally reported positive experiences integrating telehealth into their patient care during the COVID-19 pandemic. Many counselors see telehealth as a way to increase access to genetic services and, with better technology support from their intuitions, would support utilizing telehealth in their clinical practice.

Alternative option labeling impacts decision-making in noninvasive prenatal screening.

Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision-making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision-making has identified that labeling may have unanticipated effects on patient perceptions and decision-making processes. This Internet-administered study explored the impact of option labeling on the noninvasive prenatal screening (NIPS) selections of US adults. A total of 1,062 participants were recruited through Amazon Mechanical Turk (MTurk) and randomly assigned to one of three possible label sets reflecting provider-derived and industry-derived option labels used in prenatal screening. Multinomial logistic regression analysis showed option labeling had a statistically significant impact on the NIPS selections of study participants (p = .0288). Outcomes of the Satisfaction with Decision Scale (SWD) indicated option labels did not play a role in participant satisfaction with screening selection. The results of this study indicate a need for further evaluation of the impact NIPS option labeling has on patient screening decisions in real-world clinical interactions. Clinical providers and testing laboratories offering NIPS should give careful consideration to the option labels used with prenatal screening so as to minimize influence on patient screening selection and decision-making processes.

Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective.

The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters' thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study. Six were interviewed by telephone. Participants had worked with a variety of providers including geneticists, genetic counselors, primary care physicians, and oncologists. Factors identified by Hmong interpreters that made interpretation of content difficult in clinical genetics sessions included: time constraints, technical terms, and unique cultural perspectives of Hmong patients. While all respondents felt their primary role was to interpret session content as close to verbatim as possible, there was notable variation in the description of their interpretation style and other perceived roles in the genetic counseling session. Cultural issues genetics providers could consider when working with Hmong patients and different style issues when working with Hmong interpreters are discussed. Ideas for future studies and suggestions to improve communication with Hmong patients are explored.

Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.

Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives. In the present study, 423 genetic counselors and genetic counseling students completed a 70-item web-based survey that explored genetic counselors' experiences counseling family members outside of a clinic setting. The majority (73%; n = 301/410) of respondents have been asked to provide genetic counseling. Over half (57%; n = 257/423) provided counseling, personalized genetic information or risk assessment to family members. Only a small fraction of respondents (11%; n = 45/420) responded that they received any formal training in their graduate education, or in any other capacity that addressed the issue of how genetic counselors should respond to genetic counseling requests made family members. Those who have were less likely to provide genetic counseling to a family member (p < 0.05). Respondents who provided genetic counseling to relatives were significantly more likely to think their colleagues would do the same. Those who never provided genetic counseling to relatives were more likely to think their colleagues would refer to an unrelated genetic counselor (p < 0.0001). We highlight how our results have clinical and professional implications and provide suggestions to generate discussion among genetic counselors on how they might respond to requests for counseling from family members.

Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives.

The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors' interviews were transcribed and analyzed for emergent themes. Each of the counselors had served Hmong patients in a variety of clinics and possessed counseling experience ranging from approximately one to greater than 20 years. Interviews highlighted strengths and challenges in genetic counseling sessions with Hmong patients with limited English proficiency in each of five categories: 1) relevant training during graduate school, 2) session preparation, 3) content of the counseling session, 4) perception of Hmong culture, and 5) reflections on working with Hmong interpreters. Cultural awareness and education in training programs were highlighted by all genetic counselors as valued components to patient care. All interviewees had worked with professional Hmong medical interpreters, but had different expectations for the interpreter with whom they worked. To help improve genetic services for Hmong individuals in the United States, we offer suggestions to improve some of the challenges mentioned, and recommend further studies to investigate the genetic counselor and interpreter relationship.

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.

Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal-dominant dysplasia of unknown genetic etiology. Here, we report three individuals from two unrelated families with radiological features similar to PPRD and SED, Stanescu type who share the same novel COL2A1 variant and were matched following discussion at an academic conference. In the first family, we performed whole-exome sequencing on three family members, two of whom have a PPRD-like phenotype, and identified a heterozygous variant (c.619G>A, p.Gly207Arg) in both affected individuals. Independently, targeted sequencing of the COL2A1 gene in an unrelated proband with a similar phenotype identified the same heterozygous variant. We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type.

A tailored approach to family-centered genetic counseling for cystic fibrosis newborn screening: the Wisconsin model.

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents' distress, (b) facilitate parents' understanding, (c) increase parents' capacities to use genetic information, and (d) enhance parents' experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents' needs and tailoring assessments and interventions that include a therapeutic environment, the family's emotional needs, parents' informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model's efficacy in clinical practice.