Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

1511 Background: Many BRCA1/2 mutation carriers report sharing their genetic test results with their minor children. The impact of this communication on offspring remains unknown. Methods: 163 parents who had BRCA1/2 testing completed qualitative interviews regarding their experiences with communication of their genetic test results to offspring. Descriptive responses were coded and response proportions utilized to summarize results. We used multiple regressions fit by GEE to test associations with disclosure. We controlled for parent mutation status in each regression. Results: 163 parents (52 BRCA1/2 mutation carriers) reported on 323 offspring 5 to 25 years old at the time of parent genetic testing. 107 (66%) parents reported disclosing to at least one offspring. Child age (p < 0.001) and parent cancer history (p = 0.004) were positively associated with disclosure. Parents without a BRCA1/2 mutation were more likely to communicate test results than parents with a mutation (p = 0.007). Among parents who disclosed, few (14%) reported they perceived their offspring to have had an initial negative affective or behavioral response. Others (13%) reported offspring concern for self and family. Reports of initial negative responses and concern were more frequent among parents with a mutation or a variant of uncertain significance. Many parents reported that the communication had no significant impact (39%) or a positive impact (36%) on their offspring. Conclusions: Many parents report sharing BRCA1/2 test results with their offspring. Parent self-reports suggest that they do not perceive most offspring to experience adverse reactions to this communication. Self-reports suggest that offspring learning of a BRCA1/2 mutation or a variant of uncertain significance may be more susceptible to initial negative reactions. Further research is necessary to explore psychosocial and behavioral responses to learning of hereditary risk during childhood and adolescence, and to inform the development of interventions to optimize adaptive response. No significant financial relationships to disclose.

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BRCA testing concordance with national guidelines for patients with breast cancer in community cancer programs.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.1526 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. 1526-1526

Author(s):

Leigh Boehmer ◽

Latha Shivakumar ◽

Christine B. Weldon ◽

Julia Rachel Trosman ◽

Stephanie A. Cohen ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

High Risk ◽

Genetic Test ◽

Breast Conserving Surgery ◽

Test Results ◽

Cancer Genes ◽

National Guidelines ◽

Genetic Test Results ◽

The Impact

1526 Background: Current National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment state that testing for highly penetrant breast/ovarian cancer genes is clinically indicated for women with early onset (≤ 45 years) or metastatic HER-2 negative breast cancer. A recent Association of Community Cancer Centers (ACCC) survey (N = 95) showed that > 80% of respondents reported ≤ 50% testing rate of patients with breast cancer who met guidelines. Given this disconnect, ACCC partnered with 15 community cancer programs to assess practice gaps and support interventions to improve access to genetic counseling (GC)/testing. Methods: Pre-intervention data from 9/15 partner programs for women diagnosed with stages 0-III breast cancer between 01/01/2017 and 06/30/2019 was collected. De-identified variables included: family history documentation, GC appointment/test results, and timing of results relative to treatment decisions. Results: There were 2691 women with stages 0-III breast cancer. Forty-eight percent (1284/2691) had a documented high-risk family history, 57% (729/1284) of whom had a GC appointment. This was a significantly higher rate of GC compared to the 23% (181/778) of women with no family history and 6% (35/629) of women with no documentation of family history (p < 0.0001). Patients ≤ 45 years old attended a GC appointment 72% (199/278) of the time and 49% (135/278) had genetic test results, with 84% (113/135) receiving results before surgery. For women with test results available before surgery, 37% (119/322) had breast conserving surgery, compared to 60% (144/240) with test results disclosed post-operatively (p < 0.0001). Conclusions: Genetic testing is underutilized in a community cohort of women with breast cancer. Further analysis is needed to understand the impact genetic test results have on surgical decisions. Opportunities exist to improve current rates of appropriate GC/testing. ACCC will share results of quality improvement projects to illuminate which strategies hold promise in reducing the hereditary breast cancer GC/testing practice gap.

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Risk counselling for family members in bipolar disorder and schizophrenia

The International Journal of Neuropsychopharmacology ◽

10.1017/s1461145712001150 ◽

2013 ◽

Vol 16 (3) ◽

pp. 713-714 ◽

Cited By ~ 2

Author(s):

Elliot S. Gershon

Keyword(s):

Bipolar Disorder ◽

Ethical Issues ◽

De Novo ◽

Genetic Test ◽

Family Members ◽

Population Screening ◽

Chromosome 22 ◽

Test Results ◽

Psychotherapeutic Intervention ◽

Genetic Test Results

Abstract In bipolar disorder (BD) and schizophrenia (SZ) rare and de novo chromosomal microdeletions and microduplications (CNVs) have strong effects on risk. For de novo CNVs, the risk of BD or SZ is 10% and for deletions of the q11 region on chromosome 22, the risk of either of these disorders is 77%. A not-insignificant minority of BD and SZ patients have these types of event (4–6.5%). Psychotherapeutic intervention may be needed for within-family stigma and conflicts over genetic test results. These findings also raise ethical issues on stigma prevention, population screening, and abortion based on genotype.

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Study protocol: the Australian genetics and life insurance moratorium—monitoring the effectiveness and response (A-GLIMMER) project

BMC Medical Ethics ◽

10.1186/s12910-021-00634-2 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Jane Tiller ◽

Aideen McInerney-Leo ◽

Andrea Belcher ◽

Tiffany Boughtwood ◽

Penny Gleeson ◽

...

Keyword(s):

Life Insurance ◽

Financial Services ◽

Genetic Test ◽

Insurance Industry ◽

Genetic Research ◽

Evaluation Framework ◽

Test Results ◽

Financial Industry ◽

Genetic Test Results ◽

The Impact

Abstract Background The use of genetic test results in risk-rated insurance is a significant concern internationally, with many countries banning or restricting the use of genetic test results in underwriting. In Australia, life insurers’ use of genetic test results is legal and self-regulated by the insurance industry (Financial Services Council (FSC)). In 2018, an Australian Parliamentary Inquiry recommended that insurers’ use of genetic test results in underwriting should be prohibited. In 2019, the FSC introduced an industry self-regulated moratorium on the use of genetic test results. In the absence of government oversight, it is critical that the impact, effectiveness and appropriateness of the moratorium is monitored. Here we describe the protocol of our government-funded research project, which will serve that critical function between 2020 and 2023. Methods A realist evaluation framework was developed for the project, using a context-mechanism-outcome (CMO) approach, to systematically assess the impact of the moratorium for a range of stakeholders. Outcomes which need to be achieved for the moratorium to accomplish its intended aims were identified, and specific data collection measures methods were developed to gather the evidence from relevant stakeholder groups (consumers, health professionals, financial industry and genetic research community) to determine if aims are achieved. Results from each arm of the study will be analysed and published in peer-reviewed journals as they become available. Discussion The A-GLIMMER project will provide essential monitoring of the impact and effectiveness of the self-regulated insurance moratorium. On completion of the study (3 years) a Stakeholder Report will be compiled. The Stakeholder Report will synthesise the evidence gathered in each arm of the study and use the CMO framework to evaluate the extent to which each of the outcomes have been achieved, and make evidence-based recommendations to the Australian federal government, life insurance industry and other stakeholders.

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