Last year, Penny Jankovich was diagnosed with cancer in both breasts.

A month after undergoing a lumpectomy, the Acworth woman, who was adopted and unaware of her biological family's medical history, received a genetic risk assessment to determine whether she carried the gene that would give her a greater than 70 percent chance of recurrence of breast and ovarian cancer. The results were positive.

Chris Hunt / AJC (ENLARGE)

Genetic testing can reveal family traits.

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"I thought I'd be on my way, but this little genetic test has changed everything, and thank God for it," said Jankovich, 46, who will undergo a double mastectomy with reconstruction and a hysterectomy. "Without it, I would've been a ticking time bomb."

Genetic testing, performed on a sample of blood, hair, skin or other tissue, identifies changes in chromosomes, genes or proteins associated with inherited disorders. The results can confirm or rule out a condition or your chance of developing or passing a genetic disorder to other family members who share some common genetic material.

Genetic testing is available for more than 1,500 disorders and diseases, including neurological and cardiovascular diseases, according to the National Society of Genetic Counselors. Cancer, for instance, is genetic — linked to a change or mutation in a gene — but less than 10 percent of cancer is hereditary.

"We're kind of looking for a needle in a haystack," said Kimberly King-Spohn, a genetics counselor with WellStar Kennestone Hospital, which began conducting genetic risk assessment in December.

A lot of cancers are part of syndromes, so if you test positive for a gene-causing cancer, you might be at a risk for other forms. If there are several family members who have the same type of cancer or developed cancer at a younger age, there may be an increased risk of a hereditary cancer syndrome link. So testing primarily targets people who have such a strong family history.

Carol Belcastro is one such case. Her father died of pancreatic cancer and two of her first cousins were diagnosed with breast, ovarian and kidney cancer. Belcastro's genetic testing confirmed that she and one of her sisters carried the gene, making them predisposed to breast and ovarian cancer.

The Lilburn woman underwent a partial mastectomy and a total hysterectomy. Her sister opted to monitor her health with mammograms.

"My decision was a no-brainer after seeing what both of my cousins and Dad went through," said Belcastro, 47, who has two daughters with a 50 percent chance of inheriting the gene. "I had the gift of prevention, and I felt I was extremely fortunate to be proactive."

Genetic testing equips people with the information to better manage their health and make decisions about health risks, but it cannot detect all genetic changes that can cause disease. Other genetic and environmental factors, lifestyle choices and family medical history also affect a person's risk of developing disorders.

"It's not about telling people what to do," said Angela Trepanier, president of the National Society of Genetic Counselors. "It's to provide the information to help people make informed decisions based on their own values and beliefs."

Still, genetic testing is helping doctors learn more about disease and treatment, said Andrew Faucett, director of the Genomics & Public Health Program at Emory School of Medicine, which has conducted genetic risk assessment for about 30 years, primarily for research and on infants. Instead of treating people after they get sick, genetic testing will allow doctors to identify a gene, better understand the illness and then target treatment. Eventually, doctors might be able to slow the onset or progression of a disease or even stop it from happening, he said.

"We've just opened the door for genetic testing to change the way medicine works," said Faucett. "Genetics will give us the tools to catch things before you're ill."

WHY ASK WHY?

Genetic testing helps identify genes that may increase your likelihood of developing certain disorders. Here are some of the most common conditions people test for:

• Cystic fibrosis

• Fragile X syndrome (mental impairment)

• Array-based genome hybridization (mental retardation)

• BRCA1/BRCA2 (breast cancer)

• Thrombophilia (blood clotting)

Source: National Society of Genetic Counselors

TALK BEFORE YOU TEST

Before you have genetic testing, talk to a genetics counselor to help you understand your risk and possible outcomes of the test. Talking to a counselor may also eliminate the need for genetic testing as counselors are trained in medical genetics and can evaluate family history to calculate your risk factors.

"Genetic counseling can lessen a person's heightened sense of risk," said Claudia Tinkle, genetics testing manager at DeKalb Medical, one of the first community hospitals in Atlanta to offer the service. "It's peace of mind."

To search for a genetic counselor, visit www.nsgc.org and click on the Find a Counselor link.

OTHER QUESTIONS

If you might go for genetic testing, here are some questions to consider:

• What decisions will you need or want to make once you know the results? Consider the implications of having the test and the impact it could have on you and your family, medically, emotionally and in terms of life planning.

• What are the credentials of the person who will give you the test results? It is important that someone who has expertise in genetics helps you understand and interpret your test results. For example, genetic counselors have specialized training in medical genetics and counseling and earn a master's degree in their field.

• Is the correct test being ordered? Discuss with your genetic counselor which test(s) specifically address your medical concerns. There are many genetic tests, each of which is looking for a different medical condition. If the wrong test is ordered, it may not give you accurate information about your medical concerns.

• How valid are the test results? Some results will be clear while others will be inconclusive or require additional testing.

• What are your next steps once you have the test results? Take time to learn more about what these results mean for your health and who else in your family may be at risk and may need this information.

Source: National Society of Genetic Counselors

COVERAGE AND PROTECTION

Although many insurers, including Medicare, cover genetic testing, many patients fear that a genetic predisposition to disease may lead to elevated premiums or being dropped by their insurer. Others fear that employers will discriminate against them in hiring or promotion decisions.

It is illegal to exclude individuals from a group plan because of their genetic profile, and new legislation has been written to further curtail genetic discrimination. The Genetic Information Nondiscrimination Act prohibits insurers from using genetic information to deny benefits or raise premiums for policyholders. The bill also would bar employers from collecting genetic information or using it to make decisions about hiring, firing or compensation. The bill passed in the House of Representatives, but it has yet to reach the Senate floor.

Source:Staff reports