What research is being done to improve genetic testing for cancer?


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Research to find newer and better ways of detecting, treating, and preventing cancer in people who carry genetic mutations that increase the risk of certain cancers is ongoing. Scientists are also doing studies to find additional genetic changes that can increase a person’s risk of cancer.

NCI’s Cancer Genetic Markers of Susceptibility project, launched in 2005, is identifying common inherited genetic variations that are associated with an increased risk of breast cancer, prostate cancer, and other cancer types. This research may lead to new ways to prevent, diagnose, and treat cancer. However, none of the genetic variants identified through that type of research has yet proven useful for clinical management, so this remains a research effort.

NCI also funds the Cancer Genetics Network. This network is a resource for researchers studying inherited cancer risk, the integration of this information into medical practice, and behavioral, ethical, and public health issues associated with human genetics.

Additional NCI research is focused on improving genetic counseling methods and outcomes, the risks and benefits of at-home genetic testing, and the effects of advertising of these tests on patients, providers, and the health care system. Researchers are also working to improve the laboratory methods available for genetic testing.

Selected References

1. Garber J, Offit K. Hereditary cancer predisposition syndromes. Journal of Clinical Oncology 2005; 23(2):276–292. [PubMed Abstract]

2. Hudson K, Javitt G, Burke W, et al. ASHG statement on direct-to-consumer genetic testing in the United States. American Journal of Human Genetics 2007; 81(3):635–637. [PMC Article]

3. Lindor NM, McMaster ML, Lindor CJ, Greene MH. Concise handbook of familial cancer susceptibility syndromes—second edition. Journal of the National Cancer Institute Monographs2008; 38:1–93.  [PubMed Abstract]

4. Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.Journal of Genetic Counseling 2012; 21(2):151–161. [PubMed Abstract]

5. Robson M, Storm C, Weitzel J, et al. American Society of Clinical Oncology Policy Statement update: Genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology 2010; 28(5):893–901. [PubMed Abstract]

6. Spencer DH, Lockwood C, Topol E, et al. Direct-to-consumer genetic testing: reliable or risky?Clinical Chemistry 2011; 57(12): 1641–1644. [PubMed Abstract]

Source: National Cancer Institute.