Genetic Testing Health Article

PERIODICALS

Auxter, Sue. "Genetic Information—What Should be Regulated?" Clinical Laboratory News (December 1997): 9-11.

Biesecker, Barbara Bowles. "Genetic Susceptibility Testing for Breast and Ovarian Cancer: A Progress Report." Journal of the American Medical Women's Association (Winter 1997): 22-27.

Fink, Leslie, and Francis S. Collins. "The Human Genome Project: View From the National Institutes of Health." Journal of the American Medical Women's Association (Winter 1997): 4-7, 15.

Holtzman, Neil A., et al. "Predictive Genetic Testing: From Basic Research to Clinical Practice." Science (October 24, 1997): 602-605.

Karnes, Pamela S. "Ordering and Interpreting DNA Tests." Mayo Clinical Proceedings (December 1996): 1192-1195.

Malone, Kathleen E, et al. "BRCA1 Mutations and Breast Cancer in the General Population." Journal of the American Medical Association (March 25, 1998): 922-929.

McKinnon, Wendy C., et al. "Predisposition Genetic Testing for Late-Onset Disorders in Adults: A Position Paper of the National Society of Genetic Counselors." Journal of the American Medical Association (October 15, 1997): 1217-1221.

Newman, Beth, et al. "Frequency of Breast Cancer Attributable to BRCA1 in a Population-Based Series of American Women." Journal of the American Medical Association (March 25, 1998): 915-921.

Ponder, Bruce. "Genetic Testing for Cancer Risk." Science (November 7, 1997): 1050-1054.

Roses, Allen. "Genetic Testing for Alzheimer Disease. Practical and Ethical Issues." Archives of Neurology (October 1997): 1226-1229.

Whittaker, Lori. "Clinical Applications of Genetic Testing: Implications for the Family Physician." American Family Physician (May 1996): 2077-2084.

Wisecarver, James. "The ABCs of DNA." Laboratory Medicine (January 1997): 48-52.

Yablonsky, Terri. "Genetic Testing Helps Patients and Researchers Predict the Future." Laboratory Medicine (May 1997): 316-321.

Yablonsky, Terri. "Unlocking the Secrets to Disease. Genetic Tests Usher in a New Era in Medicine." Laboratory Medicine (April 1997): 252-256.

Yan, Hai. "Genetic Testing-Present and Future." Science (September 15, 2000): 1890-1892.

ORGANIZATIONS

Alliance of Genetic Support Groups. 4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008. (202) 966-5557. Fax: (202) 966-8553. <http://www.geneticalliance.org>.

American College of Medical Genetics. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. <http://www.faseb.org/genetics/acmg/acmgmenu.htm>.

American Society of Human Genetics. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. <http://www.faseb.org/genetics/ashg/ashgmenu.htm>.

Centers for Disease Control. GDP Office, 4770 Buford Highway NE, Atlanta, GA 30341-3724. (770) 488-3235. <http://www.cdc.gov/genetics>.

March of Dimes Birth Defects Foundation. 1275 Manaroneck Ave., White Plains, NY 10605. (888) 663-4637. resourcecenter@modimes.org. <http://www.modimes.org>.

National Human Genome Research Institute. The National Institutes of Health, 9000 Rockville Pike, Bethesda, MD20892. (301) 496-2433. <http://www.nhgri.nih.gov>.

National Society of Genetic Counselors. 233 Canterbury Dr., Wallingford, PA 19086-6617. (610) 872-1192. <http://www.nsgc.org/GeneticCounselingYou.asp>.

OTHER

Blazing a Genetic Trail. Online genetic tutorial. <http://www.hhmi.org/GeneticTrail/>.

The Gene Letter. Online newsletter. <http://www.geneletter.org>.

Online Mendelian Inheritance in Man. Online genetic testing information sponsored by National Center for Biotechnology Information. <http://www.ncbi.nlm.nih.gov/Omim/>.

Understanding Gene Testing. Online brochure produced by the U.S. Department of Health and Human Services. <http://www.gene.com/ae/AE/AEPC/NIH/index.html>.

Katherine S. Hunt, MS

KEY TERMS

Autosomal disease—A disease caused by a gene located on an autosomal chromosome.

Carrier—A person who possesses a gene for an abnormal trait without showing signs of the disorder. The person may pass the abnormal gene on to offspring.

Chromosome—A microscopic thread-like structure found within each cell of the body and consists of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size (structure) may lead to physical or mental abnormalities.

Deoxyribonucleic acid (DNA)—The genetic material in cells that holds the inherited instructions for growth, development, and cellular functioning.

Dominant gene—A gene, whose presence as a single copy, controls the expression of a trait.

Enzyme—A protein that catalyzes a biochemical reaction or change without changing its own structure or function.

Gene—A building block of inheritance, which contains the instructions for the production of a particular protein, and is made up of a molecular sequence found on a section of DNA. Each gene is found on a precise location on a chromosome.

Karyotype—A standard arrangement of photographic or computer-generated images of chromosome pairs from a cell in ascending numerical order, from largest to smallest.

Mutation—A permanent change in the genetic material that may alter a trait or characteristic of an individual, or manifest as disease, and can be transmitted to offspring.

Positive predictive value (PPV)—The probability that a person with a positive test result has, or will get, the disease.

Recessive gene—A type of gene that is not expressed as a trait unless inherited by both parents.

Sensitivity—The proportion of people with a disease who are correctly diagnosed (test positive based on diagnostic criteria). The higher the sensitivity of a test or diagnostic criteria, the lower the rate of 'false negatives,' people who have a disease but are not identified through the test.

Sex-linked disorder—A disorder caused by a gene located on a sex chromosome, usually the X chromosome.