Colorectal cancer cases and relatives of cases indicate similar willingness to receive and disclose genetic information

Context: Recent developments in genetic testing allow us to detect individuals with inherited susceptibility to some cancers. Genetic testing to identify carriers of cancer-related mutations may help lower risk by encouraging preventive behaviors and surveillance. This study assessed willingness of colon cancer cases and relatives to receive genetic information that may indicate an increased risk for cancer, to whom they would disclose genetic information, and whether receiving genetic test results may influence future prevention behaviors among individuals enrolled in the Seattle Colorectal Cancer Family Registry. Methods: Incident invasive colorectal cancer cases were identified from the Puget Sound Surveillance Epidemiology and End Results (SEER) registry. In 2007, a sequential sample of cases and relatives (n = 147) were asked to respond to a questionnaire addressing study aims. The questionnaire was administered during a baseline or 5-year follow-up interview. Results: Patterns of response to each statement were similar between colorectal cancer cases and relatives. Both colorectal cases (95%) and relatives (95%) reported willingness to receive genetic information. Nearly all participants would tell their doctor the results of a genetic test (99% of cases; 98% of relatives), and all married participants would tell their spouses. Cases (96%) anticipated being slightly more likely than relatives (90%) to change their cancer screening behavior, but this difference was not statistically significant (p = 0.33). Conclusions: A high percentage of both colorectal cancer cases and relatives sampled from the Seattle Colorectal Cancer Family Registry are interested in identifying their genetic status, discussing their genetic status with their family and doctor, and adopting behavioral changes that may reduce cancer risk.     

Legal aspects of genetic information

The federally funded Human Genome Initiative will lead to the development of new capabilities to learn about an individual''s genetic status. Legal issues are raised concerning patients'' and other parties'' access to that information. This article discusses the effect of existing statutes and case law on three pivotal questions: To what sort of information are people entitled? What control should people have over their genetic information? Do people have a right to refuse genetic information? The article emphasizes that the law protects a patient''s right to obtain or refuse genetic information about oneself, as well as the right to control the dissemination of that information to others.     

Use of pharmacological challenges to disclose neurobehavioral deficits

Delineation of the neurotoxic effects of various environmental agents is often complicated by the considerable compensatory capacity of the central nervous system (CNS). Moreover, the degree to which such compensation occurs may be critical when one is examining dosages near the threshold for biological effect. A current approach has been to use pharmacological agents to unmask deficits that are reflected in performance on subsequent behavioral tasks. This noninvasive manipulation may also provide insight into the underlying neurochemical substrates of the CNS insult. This procedure has been successfully applied in experiments examining a wide range of compounds (e.g., lead, mercury, acrylamide, carbon disulfide) in animals exposed during development or adulthood. Even more striking is the ability of this technique to disclose latent effects, i.e., effects that are demonstrable long after exposure has ceased. This laboratory has attempted to further elaborate the use of pharmacological probes. Utilizing a drug discrimination paradigm, we have investigated the altered amphetamine sensitivity exhibited by offspring exposed to lead early in life. This paradigm has been frequently employed in psychopharmacology and has been well validated as a tool for assessing drug response thresholds. Furthermore, additional pharmacological manipulations (agonists, depletors, blockers) can be imposed on the original drug discrimination to refine hypotheses regarding neurochemical alterations underlying the shifts observed in drug discrimination thresholds.