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The Option of Genetic Testing

(continued)

Table 1. Clinical Utility of Genetic/Genomic Testsa continued...

A study offered DTC genomic risk assessments at reduced cost to 3,640 highly educated (90% had some college or more), high-income (median, $100,000–$149,000 per year), predominantly white (80%) employees in the health care (the sponsoring institution), technology, and biotechnology fields.[41] Those who declined participation were more likely to be nonwhite. Among those who underwent DTC testing, about half (49.7%) expressed testing-related concerns; the most frequently cited concerns involved privacy issues. In multivariate analyses, female gender, employment in a health care field, younger age, higher education, and higher trait anxiety were significant predictors of expressing concerns about testing. The majority (82.4%) indicated that they would want to know their genetic risk of a nonpreventable disease. Women, whites, those who were younger, those who were in health-related occupations, and those who had higher trait anxiety expressed more uncertainty about whether they would want to know their genetic risk of a nonpreventable disease.

Of the 56% of participants who provided a 3-month follow-up assessment, there was neither evidence of clinically meaningful distress and health behavior change (dietary fat intake, exercise) nor a statistically significant difference in screening test uptake compared with baseline measures. Illness-specific worry was not assessed. Only 10% of participants had discussed their test results with a DTC company-specific genetic counselor; only 27% had discussed their results with their physician.[42]

Informed Consent

Informed consent can enhance preparedness for testing, including careful weighing of benefits and limitations of testing, minimization of adverse psychosocial outcomes, appropriate use of medical options, and a strengthened provider-patient relationship based on honesty, support, and trust.

Consensus exists among experts that a process of informed consent should be an integral part of the pretest counseling process.[43] This view is driven by several ethical dilemmas that can arise in genetic susceptibility testings. The most commonly cited concern is the possibility of insurance or employment discrimination if a test result, or even the fact that an individual has sought or is seeking testing, is disclosed. In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA). This federal law provides protections related to health insurance and employment discrimination based on genetic information. However, GINA does not cover life, disability, or long-term-care insurance discrimination.[44] A related issue involves stigmatization that may occur when an individual who may never develop the condition in question, or may not do so for decades, receives genetic information and is labeled or labels himself or herself as ill. Finally, in the case of genetic testing, medical information given to one individual has immediate implications for biologic relatives. These implications include not only the medical risks but also disruptions in familial relationships. The possibility for coercion exists when one family member wants to be tested but, to do so optimally, must first obtain genetic material or information from other family members.

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WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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