Last year, Penny Jankovich was diagnosed with cancer in both breasts. A month after undergoing a lumpectomy, Jankovich, 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. “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. She 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. – Cox News Service “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.” __
