Genetic Testing

Rapid advances in molecular biology resulting from new analytical techniques combined with detailed knowledge of the human genome, offer the opportunity of discovering the genetic basis of many cancers.90 As basic research into the genetic basis of cancer progresses, the clinical testing of cancer genes is becoming more common.91 Two ethical issues with genetics testing research are particularly relevant: confidentiality and informed consent.

A fundamental aspect of respect for human persons is protecting confidentiality. The available research suggests that maintaining confidentiality is a real concern of potential research participants. For example, in a study in which Hadley et al. offered genetic testing to 111 eligible first-degree relatives of patients with hereditary nonpolyposis colon cancer (HNPCC), 51% chose to participate.92 Fears of discrimination and concerns about psychologic issues were major barriers to testing. A study by Armstrong et al. of BRCA1/2 testing found similar concerns about job and insurance discrimination.93 Worries about job and insurance discrimination are concerns for family members, and safeguards should be in place to protect confidentiality. Research on how valid these concerns are and how frequent breaches of confidentiality involving genetic tests in research occur would be helpful. If they are uncommon, dissemination of such information might increase enrollment into genetic testing research studies, and if they are common, it would help develop safeguards to protect confidentiality.

A second important issue surrounds informed consent and genetics testing. In the context of genetics testing research, it is particularly important for research participants to understand the implications about genetic testing because of its potential psychologic impact on individuals.94 Indeed, the data suggest individuals with depressive symptoms are less likely to participate in genetic testing. A study by Lerman et al. of 208 members of four extended (HNPCC) families reported that those with symptoms of depression were four

TABLE 9.5. Data on attitudes toward conducting research with stored biologic samples.

Author

Year

Population

Data source

Percent permitting research with their research-derived stored biologic samples

Comment

Wendler and Emanuel86

Chen et al.8

2002 504 Americans; 246

enrolled in Alzheimer's research and 258 Medicare beneficiaries

Stegmayr and 2002 Asplund87

Malone et al.88 2002

1,311 people 11 years after blood sample collection in the MONICA project

5,411 individuals in

ECOG cancer studies 2,154 individuals in ECOG cancer studies

2004 1,060 individuals enrolled in NIH studies

Survey of attitudes

Permission for genetic research

Permission as part of informed consent Permission as part of informed consent; more detailed form based on National Action Plan for Breast Cancer model requiring three questions

Permission as part of informed consent

87.9% (for anonymized samples collected as part of research)

anonymized 93.0%

93.7% (cancer) 86.9% (other, noncancer kinds of research)

27.3% would require consent for research on clinically derived samples that are

22.3% wanted information about each use of their sample

6.7% refused future research with stored samples times less likely to obtain testing.95 Biesecker et al. reported similar findings in a study of psychosocial factors effecting genetics testing decisions among BRCA1/BRCA2 families.94 Furthermore, informed consent is also exceptionally important in genetics testing research because there is no real option of going back once the results of the test are known. Thus, individuals who do not really understand the potential impact of knowing they are carriers of a gene that predisposes them to cancer could potentially suffer long-term consequences. However, with the current emphasis on genetic counseling and the importance placed on it, valid informed consent may already be in place.

Data on risks and benefits of genetic testing would be helpful in genetics testing research. For example, there is a perception of a potential tremendous psychologic burden from knowing the results of genetic tests, but there are few long-term data on how such knowledge affects quality of life, the impact of increased interaction with physicians, and potentially more testing and follow-up. Data on the effects on other family members and family dynamics would also be helpful.

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