Looking at Our Genes

The good news is that genetic testing can lead to early diagnosis and treatment of a disorder. But some people may not want to know their genetic secrets. Some don't want to know if they are likely to develop a disease later in life, especially one that has no cure. Others have found that the information in one person's genes can reveal a great deal about other family members—who may not want to know.

And there are issues of privacy. Who should have access to the results of your test? The misuse of test results could lead to discrimination—in employment, health insurance, or other aspects of our lives.

Facing the Odds

Janet Walsh co-founder and President of the Long Island Alzheimer's Foundation.

"I am someone who likes to be in control of my life." — Janet Walsh

While Janet Walsh was still a teenager, her 58-year-old father suddenly couldn’t remember how to find his way home. So Walsh knows all too well what it’s like to have Alzheimer’s disease, a disorder leading to loss of mental functions, and she jumped at the opportunity to take a genetic test. The results were sobering: Walsh has an almost 90 percent chance of developing Alzheimer’s disease after age 65.

Alzheimer’s test results often are inconclusive, because not everyone with the most common variant gene develops the disease, and not everyone with the disease has the variant gene. Some people see no reason to be tested, but Walsh wanted to know where she stood. Determined to take control of her life, she has altered her diet under her doctor’s direction and is participating in an Alzheimer’s monitoring study. Today she keeps an eye on treatments still in development and hopes that time is on her side.

Getting the Right Tests

Jordana Sontag with her son Jacob, who has Canavan disease. Against the odds, Jacob celebrated his fifth birthday in February 2001.

"The truth is there are diseases out there that we can test for and we are not finding out about them." – Jordana Sontag

Happily pregnant with her first child at age 25, Jordana Sontag says she was clear about one thing: she wanted all prenatal tests available to make sure the baby was healthy. Her geneticist checked for Tay Sachs, a disease found mostly in Eastern European Jews like Sontag and her husband, Richard Sontag. But Jordana Sontag says no one ever mentioned the newly available test for Canavan disease, a rare nervous system disorder that also disproportionately affects this same population. And in fact, Jacob Sontag was born with Canavan disease.

Jordana Sontag wants to get the word out: genetic testing should be widely publicized and readily available to everyone. Today, she balances her busy life by caring for Jacob—whose damaged nerves render him virtually immobile—and lobbying for accessible genetic testing and gene therapy for Canavan disease.

Positive Results

Tracy Beck, PHD, knows that genetic testing for PKU spared her from mental retardation.

"If testing hadn’t been mandatory when I was born, my life would be very different." — Tracy Beck

Screening a newborn for genetic disorders can be a good way to avoid serious health problems down the road. Tracy Beck agrees. Born with a metabolic disease called phenylketonuria (PKU), Beck cannot digest certain protein components and would have become mentally retarded if her disease had gone undiagnosed.

A routine PKU test for newborns alerted Beck’s doctors to her condition, and they treated her by restricting her diet to avoid symptoms. Today, testing newborns for PKU is mandatory throughout the United States. Beck, who has just received her Ph.D. in Astronomy, is grateful for the simple test that changed her life.

Inheriting Risk

Sandy Pinder (left) Hopes that genetic testing will create a better futrue for her daughter and granddaughter

"If I hadn’t been tested, I would definitely end up with cancer later in life." — Theresa Pinder

Theresa Pinder learned at age 13 that without surgery, she would surely develop colon cancer. A genetic test showed that she had inherited familial adenomatous polyposis (FAP), a disorder characterized by polyps in the colon that almost always lead to cancer.

Pinder’s news was bad, but not entirely surprising. Her mother, Sandra Pinder, first showed symptoms of FAP while herself a teenager in 1975, before genetic testing was available. Sandra Pinder’s disease was already advanced, and she has undergone surgery dozens of times to remove her colon, numerous tumors and cancerous tissue. Doctors hope that because genetic testing alerted them to Theresa Pinder’s predisposition sooner, she should be spared much of what her mother has gone through. Now Theresa Pinder has a daughter of her own, and the family hopes for a negative test result.

Protecting Your Family

"Even when someone tries to run away from this disease, you can't—because it is a family thing." —Dana Casio

Dana Casio* wanted to be tested for Huntington’s disease (HD) from the moment she learned that a genetic test existed. Only then would she know if she had inherited this degenerative brain disorder, which severely affected her maternal grandmother and great aunt. The problem was that a positive test result would reveal that Casio’s mother, too, had the devastating disease—and that Casio’s three sisters were at risk. So she waited to undergo testing until her mother could accept a diagnosis.

When the time came, she paid for the test in cash, fearing that any hint of HD on her health records might block her or her children from future insurance coverage or employment. Her test results were negative, and Casio was relieved, especially for her children. But her mother was diagnosed with the disease, and one sister suddenly developed acute HD symptoms. Now caring for her ailing mother, Casio wants to remain anonymous to protect the privacy of her sisters and their families.

* Not her real name