Should physicians warn patients' relatives of genetic risks?

Lacroix, Mireille; Nycum, Gillian; Godard, Béatrice; Knoppers, Bartha Maria

doi:10.1503/cmaj.070956

Cited by 31 publications

(19 citation statements)

References 2 publications

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“…This specific issue should be discussed in the context of informed consent. However, under special circumstances such as, for example, when familial relationships have been disrupted or when the paternity has not been recognized etc., direct contact between the physician responsible for the genetic test and at-risk relatives should be allowed regardless of patient consent [93]. …”

Section: Ethicsmentioning

confidence: 99%

2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer

Elisei¹,

Alevizaki²,

Conte-Devolx³

et al. 2012

Eur Thyroid J

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Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an autosomal dominant trait. Three different phenotypes can be distinguished: multiple endocrine neoplasia (MEN) types 2A and 2B, in which the MTC is associated with other endocrine neoplasias, and familial MTC (FMTC), which occurs in isolation. The discovery that germline RET oncogene activating mutations are associated with 95–98% of MEN 2/FMTC syndromes and the availability of genotyping to identify mutations in affected patients and their relatives has revolutionized the diagnostic and therapeutic strategies available for the management of these patients. All patients with MTC, both those with a positive familial history and those apparently sporadic, should be submitted to RET genetic screening. Once an RET mutation has been confirmed in an index patient, first-degree relatives should be screened rapidly to identify the 50% who inherited the mutation and are therefore at risk for development of MTC. Relatives in whom no RET mutation is identified can be reassured and discharged from further follow-up, whereas RET-positive subjects (i.e. gene carriers) must be investigated and a therapeutic strategy initiated. These guideline recommendations are derived from the most recent studies identifying phenotype-genotype correlations following the discovery of causative RET gene mutations in MEN 2 eighteen years ago. Three major points will be discussed: (a) identification of patients and relatives who should have genetic screening for RET mutations, (b) management of asymptomatic gene carriers, and (c) ethics.

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Section: Ethicsmentioning

confidence: 99%

2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer

Elisei¹,

Alevizaki²,

Conte-Devolx³

et al. 2012

Eur Thyroid J

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“…It also excludes studies of or theories on direct communication with family members by health professionals, 1,2 considering that this was addressed in another review. 3,4 Instead, we concentrate on experiences and theories that come strictly out of the familial context.…”

Section: Introductionmentioning

confidence: 99%

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

2009

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What factors influence intrafamilial communication of hereditary breast and ovarian cancer (HBOC) genetic risk information? Such information can have health implications for individuals who undergo genetic testing, but it can also have implications for their blood relatives. This literature review adopts an ecological model to summarize factors at the individual, familial, and community levels, as well as cross cutting factors relating to the complexity of HBOC genetic information and responsibilities that this information can give rise to. These factors are complex and may result in conflicting senses of responsibility. Faced with the task of communicating HBOC genetic information, the response may be to attempt to balance the potential negative impact of the information on the well-being of the informee (eg, can s/he handle this information?) against the potential health benefit that the knowledge could result in. This balancing represents an effort to reconcile conflicting approaches to protecting family members, and is a moral dilemma. This review sheds light on the factors that contribute to resolve this dilemma. Keywords: BRCA 1/2; ecological; hereditary breast and ovarian cancer; genetic information; family; communication IntroductionHereditary breast and ovarian cancer (HBOC) genetic information has relevance not only for those who undergo genetic testing, but also for their genetic relatives. In light of this, intrafamilial communication of HBOC genetic information is important; but it is also highly complex and many factors weigh into the decision to communicate and the process of communication. This article is a review of factors influencing intrafamilial communication of HBOC genetic information. We adopt an 'ecological' model to categorize influencing factors at the individual, familial and community levels. Cross-cutting factors are also included, such as the complexity of the information and responsibilities that the information can give rise to (see Table 1). Improving the understanding of the factors that influence intrafamilial communication of genetic information may serve to guide genetics professionals and patients in decision making when it comes to intrafamilial communication and assist in the development of policy in this area. It may also help to guide the development of guidelines, particularly as there is a lack of guidance dealing specifically with intrafamilial communication of HBOC genetic information and genetic information more generally. This is especially important given the rapid development of new technologies for generating genetic information and the potential impact of this increase in information on families. This review is undertaken in the context of HBOC genetic information that living adults obtain in a clinical context. It does not consider communication with minor children, information about deceased adults or information generated in a research context. It also excludes studies of or theories on direct communication with family members by health professionals, 1,2 c...

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“…For one, they can inform patients before and after testing about the potential impact the results could have on family (Cheung et al 2010) and the potential that family members might not want to know (an exercise of the right not to know). They can also offer to aid patients with their communication (Nycum et al 2009b; Lacroix et al 2008), such as being present when the patient discloses to answer any questions the family member(s) might have. This could be especially helpful to assist patients and their families understand what the results really mean to the family, rather than relying on preconceptions held by the family which might be inaccurate (Lacroix et al 2008).…”

Section: Resultsmentioning

confidence: 99%

Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider

et al. 2012

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The primary goal of breast and ovarian cancer screening is to minimize the cases of advanced disease and therefore its mortality rate. For hereditary breast and ovarian cancer, one method to reach this goal is to disseminate genetic risk information among family members. However, experience tells us that this information does not always reach family members in a timely manner, if at all. There are many moving parts to a decision to disclose genetic risk information within a family, and the lack of detail and cohesion in current guidelines do a disservice to hereditary breast cancer prevention. Utilizing legal, medical, and policy databases for literature, case law and policy documents relating to communication of genetic test results within families, as well as a consultative process with representative stakeholders, a points to consider has been developed to address a number of issues that might impact the ability and willingness of patients to inform family members of genetic risk. These include: what is “genetic information”; who is the “family”; why should patients inform their family members; and how should health professionals be involved in this process? This represents only an initial step towards fostering better communication within families. Additional research is needed to determine the best methods for encouraging this communication and motivations for disclosing or not and to promote the development of a solution, considering the complexity of human relationships and the probabilistic nature of genetic information.

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Should physicians warn patients' relatives of genetic risks?

Cited by 31 publications

References 2 publications

2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer

2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider

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