Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

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Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics

Familial Cancer ◽

10.1007/s10689-017-9970-4 ◽

2017 ◽

Vol 16 (3) ◽

pp. 447-457 ◽

Cited By ~ 13

Author(s):

Benjamin Derbez ◽

Antoine de Pauw ◽

Dominique Stoppa-Lyonnet ◽

Sandrine de Montgolfier

Keyword(s):

Professional Practice ◽

Genetic Information ◽

Cancer Genetics ◽

Family Members

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Disclosing genetic information to family members without consent: Five Australian case studies

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2020.104035 ◽

2020 ◽

Vol 63 (11) ◽

pp. 104035

Author(s):

Jane Tiller ◽

Gemma Bilkey ◽

Rebecca Macintosh ◽

Sarah O'Sullivan ◽

Stephanie Groube ◽

...

Keyword(s):

Case Studies ◽

Genetic Information ◽

Family Members ◽

Australian Case

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Striking a balance: resolving conflicts between the duty of confidentiality and duties to third parties in genetics

Legal Studies ◽

10.1017/lst.2018.11 ◽

2018 ◽

Vol 38 (4) ◽

pp. 645-665

Author(s):

Naomi Hawkins ◽

Timon Hughes-Davies

Keyword(s):

Family Member ◽

Genetic Information ◽

Family Members ◽

Third Parties ◽

Third Party ◽

Legal Rights ◽

Duty Of Care ◽

Healthcare Practitioner ◽

Party Family

AbstractGenetic information is relevant not only to the patient, but also to their family. Where a patient refuses to share that information with family members, then their legal rights may conflict. This paper focuses on that conflict between the rights of individuals and the rights of third parties. We first examine the nature of the duty of confidence as it applies in these circumstances, and the extent to which it can appropriately accommodate the familial nature of genetic information. We then consider the situations in which a healthcare practitioner might owe a third-party family member a tortious duty of care. We conclude that in most cases, there will be no duty owed to third parties, but that in certain limited circumstances, a duty of care should arise.

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Genetic Knowledge and Third-Party Interests

Cambridge Quarterly of Healthcare Ethics ◽

10.1017/s096318019980317x ◽

1999 ◽

Vol 8 (3) ◽

pp. 386-392 ◽

Cited By ~ 2

Author(s):

ELISABETH BOETZKES

Keyword(s):

Genetic Information ◽

Family Members ◽

Reproductive Technologies ◽

Third Party ◽

Insurance Companies ◽

Royal Commission ◽

Dna Testing ◽

Reasonable Person ◽

Reasonable Person Standard ◽

Professional Guidelines

Recent discussions of genetic information have highlighted the need for ethical disclosure guidelines. For instance, the (Canadian) Royal Commission on New Reproductive Technologies points out the range of third-party interests in genetic information and the lack of clear ethical and professional guidelines governing its dissemination. Among the more worrying interests are those of insurance companies and prospective employers. However, also worrisome is the problem of negotiating the first-party interest in privacy (from which the professional obligation of confidentiality arises) and strong third-party claims from family members. The survey by Knoppers and Laberge of consent forms currently used in DNA testing in Canada shows that fewer than half mention access by family members, and only three out of 20 alert subjects to the possibility of finding nonpaternity. Both the Royal Commission and the Knoppers research group recommend integrated, national consent standards, with the Knoppers group explicitly approving a “reasonable person” standard of disclosure. While endorsing the call for integrated consent guidelines, in this paper I intend to raise some doubts about the adequacy of the reasonable person standard in light of gender differences in reproductive burden and risk perception.

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Postmortem disclosure of genetic information to family members: active or passive?

Trends in Molecular Medicine ◽

10.1016/j.molmed.2015.01.002 ◽

2015 ◽

Vol 21 (3) ◽

pp. 148-153 ◽

Cited By ~ 12

Author(s):

Sarah N. Boers ◽

Johannes J.M. van Delden ◽

Nine V. Knoers ◽

Annelien L. Bredenoord

Keyword(s):

Genetic Information ◽

Family Members

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Dissemination of Genetic Information in Swiss Families with Lynch Syndrome: A Qualitative Exploratory Study

Clinical Oncology and Research ◽

10.31487/j.cor.2020.01.01 ◽

2020 ◽

pp. 1-5

Author(s):

Sheila Unger ◽

Eléonore Simond ◽

Emeline Davoine ◽

Maria C. Katapodi ◽

Sheila Unger

Keyword(s):

Lynch Syndrome ◽

Genetic Information ◽

Personal Responsibility ◽

Family Members ◽

Cancer Predisposition ◽

Communication Process ◽

Traumatic Experience ◽

Structured Interviews ◽

Cascade Screening ◽

Medical Task

In Switzerland, out of respect for privacy and in accordance with federal laws regarding genetic testing, information sharing about hereditary cancer predisposition syndromes is initiated solely by the proband and never from the medical clinic. Thus, an essentially medical task, communication of cancer risk and possible testing, is always delegated, at least initially, to the patient. In order to explore this communication process, its associated difficulties and possibilities for improvements, we have conducted a study with Lynch syndrome families in Western Switzerland. Semi-structured interviews were conducted with 19 participants (12 female, 7 male), either in person or by telephone. We specifically explored whether participants considered transmission of genetic information a medical or personal responsibility. Other recurrent themes were also identified, including family wisdom and superstitions, emotional responses, and parent-child guilt. The identification of a cancer predisposition and the request to communicate this with family members remained a traumatic experience for many. However, within this group, which may be biased towards better communicators, the information was shared with at risk relatives. Despite inherent difficulties, the majority wish to retain the responsibility for contacting family members. This suggests that in Switzerland, and possibly in other countries with similar rules/attitudes towards privacy, efforts to improve cascade screening should be directed towards facilitating intra-familial communication.

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Engaging Patients in Precision Oncology: Development and Usability of a Web-Based Patient-Facing Genomic Sequencing Report

JCO Precision Oncology ◽

10.1200/po.19.00195 ◽

2020 ◽

pp. 307-318 ◽

Cited By ~ 1

Author(s):

Ilana B. Solomon ◽

Sarah McGraw ◽

Jenny Shen ◽

Adem Albayrak ◽

Gil Alterovitz ◽

...

Keyword(s):

Genetic Counseling ◽

Focus Groups ◽

Family Members ◽

Return Of Results ◽

Genomic Sequencing ◽

Precision Oncology ◽

Web Based ◽

Genetic Literacy ◽

Treatment Information ◽

Genomic Results

PURPOSE Evidence-based somatic and germline sequencing has transformed cancer care and improves patient outcomes. However, patients’ low genetic literacy and misunderstanding of their own genomic results poses a threat to the realization of precision oncology. To optimize patient genomic comprehension, we developed a Web-based, patient-directed, genomic sequencing education and return-of-results tool, HOPE-Genomics. METHODS The HOPE-Genomics prototype included somatic and germline sequencing results, embedded multimedia genomic education, and interactive features (eg, request for genetic counseling). Between January and April 2018, we elicited feedback on tool usability and comprehensiveness through participant surveys, 4 focus groups of patients with cancer and their family members, and 3 provider focus groups (comprising 8 patients, 5 family members, and 19 providers). RESULTS We identified themes in patient/family tool-related responses, including the desire to view a patient-friendly report, a desire to receive multiple types of genomic information (eg, prognostic and uncertain), high acceptability of report content, and interest in tool-enabled access to genetic counseling. Major themes from the clinician focus groups included believing the tool could help patients formulate questions and facilitate patients’ communication of results to family members. However, there were diverse responses from all participants in terms of tool implementation (ie, timing and nature of report release). Some participants preferred report release before meeting with the provider, and others preferred it during the appointment. Additionally, some clinicians were concerned about providing prognostic and treatment information through the tool. CONCLUSION There was high acceptability and interest from patients, family members, and providers in a patient-directed genomics report. Future work will determine whether direct-to-patient reporting of genomic results improves patient knowledge, care engagement, and compliance with genomically guided interventions.

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Disclosure of genetic information within families: a case report

Clinical Ethics ◽

10.1258/ce.2007.007051 ◽

2008 ◽

Vol 3 (1) ◽

pp. 7-10

Author(s):

G C Crawford ◽

A M Lucassen

Keyword(s):

Case Report ◽

Genetic Information ◽

Family Members ◽

Relevant Information ◽

Major Surgery ◽

Ongoing Debate ◽

The Family ◽

Moral Duties ◽

Test Result

There has been much discussion about what, if any, legal and moral duties professionals have to disclose relevant genetic information to the family members of someone with an identified disease predisposing mutation. Here, we present a case report where dissemination of such a genetic test result did not take place within a family. In contrast to previous literature, there appeared to be no deliberate withholding of information, instead distant relatives were unable to communicate relevant information appropriately. When communication was facilitated through the follow-up of a chance remark, the patient was able to avoid planned major surgery, with its attendant morbidity, and her high anxiety levels were much reduced. We believe this case highlights the need for an ongoing debate on how genetic services can best support patients and their families with disclosing relevant genetic information to other family members.

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