Prime Time Living - Page 14 - Genetics and you

Prime Time Living
- Page 14
Genetics and you
Pros and cons of genetic testing

By Margit B. Weisgal, Contributing Writer

There are some discoveries that become so integrated into our lives that we have to stop and think what it was like before. DNA, deoxyribonucleic acid, despite its first isolation in the 19th century, is everywhere, part of our language, a shorthand to describe the basis upon which something is built, be it our bodies, a company, a trait, quality or feature. Think of common phrases like “the company’s DNA,” or “kindness is just part of her DNA.”


Now, DNA testing and its sibling, genetic testing, have become ubiquitous. For a reasonable amount of money – ranging from approximately $100 to $200 – a slew of for-profit companies offers to test your DNA, providing you with a map of where your ancestors came from. For those who have questions about their family trees, one of these tests may provide a starting point to learn more about your past. You can even test your dog’s DNA to find out its breed.

But genetic testing, looking at individual cells, chromosomes (DNA molecules) and strands of DNA, goes far beyond this and delves into potential health issues and screenings. Before committing to this deeper analysis, look at the benefits, but don’t ignore the risks.

Genetic tests can be costly; think about why you’re having the test done and what you want to learn. Depending on which test is needed, how many people or family members are involved, and the complexity, costs can go from $100 to more than $2,000. Among the more than 1,000 tests available are newborn screening, diagnostic testing, carrier testing, prenatal testing, predictive and pre-symptomatic testing, and, of course, forensic testing. The last is used in courts either to convict or exonerate those indicted for crimes.

There are several methods of genetic testing. Molecular or gene tests give you information on mutations that could signify a genetic disorder. Biochemical tests look at proteins, also useful to see genetic disorders. Chromosomal tests analyze chromosome pairs that cause genetic conditions.

You also want to be able to trust the validity of a test. In the U.S., there are strict national and state regulations for labs that perform health-related and genetic testing. For-profit companies are not subject to these rigid requirements, so before choosing a company, look into the scientific basis for their products.

When doing your research, it’s best to rely on U.S. or international websites written and managed by government agencies or organizations that don’t have a financial interest in convincing you to make a choice.

They provide more even-handed material for you to peruse, looking at the pluses and minuses of specific tests. Yes, there are benefits, but there are risks and limitations you should take into consideration.

An excellent starting point is Genetics Home Reference ( www.ghr.nlm.nih.gov ) a consumer health website from the National Library of Medicine, which is part of the National Institutes of Health, an agency of the U.S. Department of Health and Human Services. The website provides information for the general public about the effects of genetic variation on human health.

Information provided is written by its staff who have advanced training in genetics. GHR recommends working with a geneticist or genetics counselor who “can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.” It also suggests visiting other sites that have additional information about genetic testing:

•EuroGenTest ( www.eurogentest.org ) is a “free-access website providing information about genetic testing and links to support groups across Europe.

•Genetic Alliance ( www.geneticalliance.org.uk ), of which EuroGenTest is a part, is comprised of 200 patient organizations. Its goal is to “improve the lives of patients and families affected by rare, genetic and undiagnosed conditions,” according to the site.

•National Human Genome Research Institute ( www.genome.gov ) is the driving force for advancing genomics research at the National Institutes of Health (NIH). GHR defines a genome as “an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome – more than 3 billion DNA base pairs – is contained in all cells that have a nucleus.”


Genetics, continued on page 26