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.

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.

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.

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.

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.

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.

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.