Health care utilization and behavior changes after workplace genetic testing at a large US health care system.

Purpose: This study explored employee health behavior changes and health care utilization after workplace genetic testing (wGT). Wellness-program-associated wGT seeks to improve employee health, but the related health implications are unknown.

Methods: Employees of a large US health care system offering wGT (cancer, heart disease, and pharmacogenomics [PGx]) were sent electronic surveys.

Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today.

Glomerular diseases are classified using a descriptive taxonomy that is not reflective of the heterogeneous underlying molecular drivers. This limits not only diagnostic and therapeutic patient management, but also impacts clinical trials evaluating targeted interventions. The Nephrotic Syndrome Study Network (NEPTUNE) is poised to address these challenges.

Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators.

Introduction: There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic providers with whom to partner and a general lack of support services for all clinicians.

Methods: We administered a survey in March 2022 to assess the current ability and ongoing needs of nephrology divisions to return clinically significant research genetic results to patients and to implement clinical genetic testing.

Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.

Purpose Of Review: Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are a limited resource, and therefore, other providers must be prepared to integrate genetic testing into their practice.

Recent Findings: Recent ALS/FTD studies have demonstrated that lack of family history does not preclude a genetic etiology.

Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.

The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for genetic testing can be covered with a targeted discussion for many conditions rather than a time-intensive traditional genetic counseling approach. We surveyed US genetics professionals (medical geneticists and genetic counselors) on their response to scenarios that proposed core informed consent concepts for clinical genetic testing developed in a prior expert consensus process. The anonymous online survey included responses to 3 (of 6 possible) different clinical scenarios that summarized the application of the core concepts.

The Michigan Genetic Hereditary Testing (MiGHT) study's innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial.

Background: Although most cancers are sporadic, germline genetic variants are implicated in 5-10% of cancer cases. Clinical genetic testing identifies pathogenic germline genetic variants for hereditary cancers. The Michigan Genetic Hereditary Testing (MiGHT) study is a three-arm randomized clinical trial that aims to test the efficacy of two patient-level behavioral interventions on uptake of cancer genetic testing.

Tools for communicating risk for Parkinson's disease.

We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both patient and consumer interest and emerging clinical trials targeting genetic forms of the disease. Attention has turned to prodromal forms of neurodegenerative diseases, including PD, resulting in assessments of individuals at risk, with genetic testing often included in the evaluation.

The goldilocks conundrum: Disclosing discrimination risks in informed consent.

Informed consent is a foundational ethical and legal principle in human subjects research and clinical care. Yet, there is extensive debate over how much information must be disclosed to meet ethical goals and legal requirements, especially about non-medical risks. In this online, survey-based experiment of a diverse sample of the US general population, we explored one aspect of this debate by testing whether the level of detail included in informed consent regarding genetic anti-discrimination protections alters individuals' willingness to participate in a hypothetical research study and their concerns regarding genetic discrimination.

Searching for Answers: Information-Seeking by Young People At-Risk for Huntington's Disease.

Background: Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington's disease (HD).

Objective: We sought to ascertain information-seeking practices of young people who grew up at-risk for HD.

Methods: Participants ages 18-25 were recruited from HD support organizations.

Voluntary workplace genomic testing: wellness benefit or Pandora's box?

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape.

Defining the Critical Components of Informed Consent for Genetic Testing.

Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required.

Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests.

The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage.

Purpose: More than a decade after the Genetic Information Nondiscrimination Act (GINA) was passed, there is a paucity of research on the general public's awareness of GINA. This study's objective was to assess knowledge of GINA and concerns of genetic discrimination.

Methods: A quota-based sample of US adults (N = 421) was recruited via Qualtrics Research Services to complete an online survey.

Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond.

Overnight, as a result of the COVID-19 pandemic, telehealth rapidly transitioned from limited application to widespread implementation. The field of genetic counseling was well positioned to make this transition to virtual care since there is generally less of a need for patients to be seen in-person for physical exams or urgent care. Going forward, virtual visits will presumably become a mainstay in the provision of genetic services and it is anticipated that clinics will adopt "hybrid" models with both in-person and virtual visit options.

Family members' perspectives on learning cognitively unimpaired older adults' amyloid-β PET scan results.

Background/objectives: Disclosure of Alzheimer's disease (AD) risk information to cognitively unimpaired older adults may become more common if preclinical AD is shown to be identifiable and amenable to treatment. Little, however, is known about how families will react to this information.

Design And Setting: Semi-structured telephonic interviews.

Application of a framework to guide genetic testing communication across clinical indications.

Background: Genetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. We report on the application and clinical implications of a framework to consistently integrate genetics expertise where it is most useful to patients.

Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

Background: Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated.

Methods: We exome sequenced 240 cases with thoracic aortic dissection and 258 controls, then examined 11 aortopathy genes.

Genetic testing and insurance implications: Surveying the US general population about discrimination concerns and knowledge of the Genetic Information Nondiscrimination Act (GINA).

Globally, due to public concerns of genetic discrimination, some countries and insurance industries have adopted policies restricting insurer use of genetic information, such as the US Genetic Information Nondiscrimination Act (GINA). This study reports on combined analysis of two surveys assessing public knowledge of GINA and concerns of genetic discrimination in a diverse U.S.

A survey of aortic disease biorepository participants' preferences for return of research genetic results.

There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n = 225, 79% male, mean age = 61 years) with an aortopathy were surveyed to assess preferences for receiving research genetic results.

Genetic counseling following direct-to consumer genetic testing: Consumer perspectives.

As the use and scope of direct-to-consumer genetic testing (DTC GT), also becoming known as consumer-driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study, we interviewed individuals who sought genetic counseling after receiving DTC GT results to explore their motivations, expectations, and experiences. Participants were recruited from the Impact of Personal Genomics (PGen) Study, a longitudinal cohort study of DTC GT customers.

40 years and beyond for the National Society of Genetic Counselors: Reflections on genetic counseling practice.

The National Society of Genetic Counselors (NSGC) was established in 1979 and has grown from a small dedicated group of genetic counselors to over 5,000 certified genetic counselors in 2019. During this time period, there have been tremendous advances in the practice of genetic counseling, the availability of genetic testing, and the use of technology. These advances have significantly changed our roles and responsibilities and have contributed to the expansion and diversification of our field in clinical and non-clinical work settings.

Genetic testing for neurodegenerative diseases: Ethical and health communication challenges.

Advances in genomic science are informing an expansion of genetic testing for neurodegenerative diseases, which can be used for diagnostic and predictive purposes and performed in both medical and consumer genomics settings. Such testing-which is often for severe and incurable conditions like Huntington's, Alzheimer's, and Parkinson's diseases-raises important ethical and health communication challenges. This review addresses such challenges in the contexts of clinical, research, and direct-to-consumer genetic testing; these include informed consent, risk estimation and communication, potential benefits and psychosocial harms of genetic information (e.

Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment.

Introduction: The safety of predicting conversion from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia using apolipoprotein E () genotyping is unknown.

Methods: We randomized 114 individuals with MCI to receive estimates of 3-year risk of conversion to AD dementia informed by genotyping (disclosure arm) or not (non-disclosure arm) in a non-inferiority clinical trial. Primary outcomes were anxiety and depression scores.