Benefits and limitations of telegenetics: A literature review.

Telegenetics involves the use of technology (generally video conferencing) to remotely provide genetic services. A telegenetics platform is critical for those with limitations or vulnerabilities compromising their ability to attend clinic in-person, including individuals in rural areas. As the demand for remote genetics services increases, and amidst the COVID-19 pandemic with social distancing practices in place, we conducted a literature review to examine the benefits and limitations of telegenetics and explore the views of patients and health professionals utilizing telegenetics. Searches of the PubMed database identified 21 relevant primary studies for inclusion. The majority of studies found acceptability of telegenetics to be high among patients and health professionals and that telegenetics provided access to genetics services for underserved communities. The main benefits cited include cost-effectiveness and reduction in travel time for genetics services providing outreach clinics and patients who would otherwise travel long distances to access genetics. Patients appreciated the convenience of telegenetics including the reduced wait times, although a minority of patients reported their psychosocial needs were not adequately met. Eight studies compared outcomes between telegenetics and in-person services; findings suggested when comparing telegenetics patients to their in-person counterparts, telegenetics patients had a similar level of knowledge and understanding of genetics and similar psychological outcomes. Some studies reported challenges related to establishing rapport and reading and responding to verbal cues via telegenetics, while technical issues were not generally found to be a major limitation. Some service adaptations, for example, counseling strategies, may be required to successfully deliver telegenetics. Further research may be necessary to gather and examine data on how telegenetics outcomes compare to that of in-person genetic counseling and adapt services accordingly.

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.

Population carrier screening for cystic fibrosis (CF) enables individuals with no known family history of the condition to ascertain their risk of having a child with CF. When an individual is identified as a carrier of CF, a life-shortening condition, they are encouraged to inform their relatives who are at increased risk of being a carrier. Research suggests that the uptake of CF carrier testing amongst relatives of carriers or people with CF is low. This study aimed to explore approaches to facilitate the process of family communication of genetic information after an individual is identified as a carrier of CF through population screening. Five key informants were interviewed to inform the development of a telephone survey which was administered to 21 individuals identified as carriers of CF through population carrier screening at Victorian Clinical Genetics Services. This study suggests that providing carriers with additional information and follow-up support would be appreciated by carriers and could result in more accurate information being disseminated more widely within families, which could lead to more at-risk relatives accessing testing. Suggested strategies to enhance current practice include mailing a fact sheet to carriers and a follow-up telephone call provided by a genetic counsellor to carriers to offer further support in communicating this information to their relatives.