BRCAShare—Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study

11.25.2022

Abstract

While genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is well-established in the field of medicine, family members' uptake of cascade genetic testing for known familial pathogenic variants remains low. Probands often become responsible for initiating familial communication about their testing results, and barriers to communication may include difficulty in conveying information to relatives and a lack of communication resources for probands' use. In this study, we tested a two-minute animated digital message (ADM) intervention guided by the Health Belief Model (HBM) in an unselected sample to determine hypothetical individual perceptions of susceptibility and severity and behavioral intention to act on the information provided in the ADM. We recruited genetic testing naïve adults from the United States with no personal history of cancer through Amazon Mechanical Turk to participate in this study. Participants were presented a hypothetical scenario describing a relative's recent HBOC diagnosis, viewed the ADM, and answered a questionnaire assessing participants' perception of the HBM constructs in relation to the hypothetical scenario and participants' intentions to pursue cascade genetic testing, talk to a healthcare professional, or talk to family members after ADM viewing. Participants (n = 373) largely perceived HBOC as serious and believed that they could benefit from the information provided by genetic testing; 76% hypothetically intended to pursue genetic testing at a cost of $100 or less, and 90% intended to either pursue testing or talk to a healthcare provider or family members. This feasibility study in an unaffected population could mimic the experience of distant/less-engaged relatives in HBOC families after receiving unexpected information about cascade genetic testing. Most participants demonstrated behavioral intention toward cascade testing, at a rate higher than literature would suggest is typical in high-risk families, indicating that a theory-supported, simple to use intervention may be useful in clinical practice.

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Study Gauges Success of Telephone vs. In-Person Genetic Counseling in Underserved Populations

11.19.2022

NASHVILLE, Tenn. – Nov. 19, 2022 – People from underserved populations are as likely to complete a visit with a genetic counselor in person as by telephone, suggests interim data from a study whose lead investigator was awarded a Jane Engelberg Memorial Fellowship (JEMF). The interim report is being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.

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Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial

11.17.2022

Abstract

Genetic testing for hypertrophic cardiomyopathy (HCM) is considered a key aspect of management. Communication of genetic test results to the proband and their family members, can be a barrier to effective uptake. We hypothesized that a communication aid would facilitate effective communication, and sought to evaluate knowledge and communication of HCM risk to at-risk relatives. This was a prospective randomized controlled trial. Consecutive HCM patients attending a specialized clinic, who agreed to participate, were randomized to the intervention or current clinical practice. The intervention consisted of a genetic counselor-led appointment, separate to their clinical cardiology review, and guided by a communication booklet which could be written in and taken home. Current clinical practice was defined as the return of the genetic result by a genetic counselor and cardiologist, often as part of a clinical cardiology review. The primary outcome was the ability and confidence of the individual to communicate genetic results to at-risk relatives. The a priori outcome of improved communication among HCM families did not show statistically significant differences between the control and intervention group, though the majority of probands in the intervention group achieved fair communication (n = 13/22) and had higher genetic knowledge scores than those in the control group (7 ± 3 versus 6 ± 3). A total of 29% of at-risk relatives were not informed of a genetic result in their family. Communication among HCM families remains challenging, with nearly a third of at-risk relatives not informed of a genetic result. We show a significant gap in the current approach to supporting family communication about genetics. Australian New Zealand Clinical Trials Registry: ACTRN12617000706370.

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Measuring quality and value in genetic counseling: The current landscape and future directions

11.17.2022

Abstract

Genetic counselors strive to provide high-quality genetic services. To do so, it is essential to define quality in genetic counseling and identify opportunities for improvement. This Professional Issues article provides an overview of the evaluation of healthcare quality in genetic counseling. The National Society of Genetic Counselors' Research, Quality, and Outcomes Committee partnered with Discern Health, a value-based healthcare policy consulting firm, to develop a care continuum model of genetic counseling. Using the proposed model, currently available quality measures relevant to genetic counseling in the US healthcare system were assessed, allowing for the identification of gaps and priority areas for further development. A total of 560 quality measures were identified that can be applied to various aspects of the care continuum model across a range of clinical specialty areas in genetic counseling, although few measures were specific to genetic counseling or genetic conditions. Areas where quality measures were lacking included: attitudes toward genetic testing, family communication, stigma, and issues of justice, equity, diversity, and inclusion. We discuss these findings and other strategies for an evidence-based approach to quality in genetic counseling. Strategic directions for the genetic counseling profession should include a consolidated approach to research on quality and value of genetic counseling, development of quality metrics and patient-experience measures, and engagement with other improvement activities. These strategies will allow for benchmarking, performance improvement, and future implementation in accountability programs which will strengthen genetic counseling as a profession that provides evidence-based high-quality care to all patients.

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NSGC ANNUAL CONFERENCE NEWS BRIEFS

11.16.2022

Research Demonstrates Genetic Counselors’ Role in Patient Care

NASHVILLE, Tenn. – Nov. 16, 2022 – Genetic testing may help determine the most appropriate medication for children with attention deficit disorder (ADD), electronic medical records can help decrease disparities in access to genetic testing, most people offered genetic testing at work are not familiar with discrimination protections and genetic counselors play a vital role in a national effort to build a diverse health database. These are among the research findings being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.

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About Half of Autistic Adults Think Genetic Testing Shouldn’t be Performed

11.16.2022

NASHVILLE, Tenn. – Nov. 16, 2022 – Autistic adults have serious concerns about genetic testing for the condition, with nearly half saying it shouldn’t be done at all, according to results of a survey being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.

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Preimplantation Genetic Testing of Embryos Skyrocketing, Study Finds Suggests Growth Related to Increase in Genetic Testing Overall

11.16.2022

NASHVILLE, Tenn. – Nov. 16, 2022 – The use of preimplantation genetic testing as a part of in vitro fertilization (IVF) has skyrocketed, and is likely linked to the increased use of carrier screening and other forms of genetic testing, suggests a study being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.

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Unlocking Cardiovascular Genetics at Texas Children’s Heart Center

11.14.2022

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Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: “A great technology creating new dilemmas”

11.11.2022

Abstract

Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommendations on UF disclosure generally leave room for variation in practice. This study aimed to explore clinical geneticists' views on and experiences with UFs during pretest counseling and UF disclosure. We interviewed 20 certified clinical genetics medical specialists and clinical genetics residents, working in 7 Dutch genetic centers. Participants indicated that discussing the probability of detecting UFs is an integral part of pretest counseling and informed consent. However, they expressed doubts about the degree to which this discussion should occur and about what information they should share with patients. They argued that the contents of their counseling should depend on the individual patient's capacity to understand information. These results endorse the importance of tailored pretest counseling alongside informed consent for optimal genetic consultations. While “medical actionability” is broadly accepted as an important criterion for the disclosure of UFs, participants experienced substantial uncertainty regarding this concept. This study underscores the need for further demarcation of what exactly constitutes medical actionability. Installation of an expert panel to help healthcare professionals decide what variants to disclose will support them when facing the dilemmas presented by UFs.

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A Day in the Life of a Genetic Counselor in Industry

11.9.2022

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