Home |  Elder Rights |  Health |  Pension Watch |  Rural Aging |  Armed Conflict |  Aging Watch at the UN  

Mission  |  Contact Us  |  Internships  |  Donate Now!  

back

Recent scientific advances have changed the time-honored exercise of creating a medical family tree. But they haven't changed that fact that your health – even your life – could depend on having one.

Also known as a pedigree (yes, that's right, you needn't be a social climber to have one), a medical family tree is a visual representation of your family health history – the information your doctor once extracted from you via questionnaire or a harried office visit. But with the genetics revolution upon us, more people are compiling medical pedigrees themselves, say tree promoters, well before any doctor's visit.

And they're not just making brief notations about what reportedly got the best of Grandpa; they're following up verbal accounts with deeper sleuthing and documentation to trace disease patterns among their ancestors.

Then they're taking their diagrams to a genetic counselor or physician to help interpret what they've found.

Why bother? Because, say doctors and geneticists, medical family trees are quickly becoming the quintessential preventive medicine tool. And thanks to rapid advances in genetics research, better online resources and – at least for some – growing social openness about inherited diseases, putting a medical family tree together is a very different exercise than it used to be.

"The family tree has become the most important genetic test of all," said Donna Russo, coordinator of the cancer genetics program at New York-Presbyterian Hospital - Columbia campus. "All families have some kind of disease. The more you know, the more tools you have to practice preventive medicine, for yourself and your kids."

Joann Boughman, executive vice president of the American Society of Human Genetics, a professional group for geneticists based in Rockville, used the tree she and other family members compiled to better pin down the risk of the cancers that killed both her parents and other relatives. Conscious of her disease heritage, she is "careful and assertive" about getting mammograms and doing breast self-exams and making sure her gynecologists know why. "Family history has been an important tool in medicine from time immemorial, but the more we learn about the genetic basis of a variety of disorders, the more useful the family tree becomes," she said.

Sandra Thomas of Delray Beach, Fla., learned that lesson after her mother was diagnosed in 1983 with hemochromatosis, a hereditary disorder that can cause the body to absorb fatal amounts of iron from a normal diet. Subsequent forays into her family medical history revealed that many relatives had died of causes related to the this disorder, which dates back to Viking famines, said Thomas.

In 1996 scientists identified the gene responsible, marketed a test for the condition and developed a treatment. The Centers for Disease Control and Prevention now recognizes hemochromatosis as the most common genetic disease in the United States, with 45 million people carrying the mutation.

The advances came too late to save Thomas's mother, who died in 1999 of liver cancer brought on by the gene mutation, but not too late to help Thomas. Through genetic testing, she knows she is a recessive carrier and is not likely to develop the disease. Her relatives who now know they are at risk can get treatment in time to control or even prevent the condition if they act soon enough.

"Tracing your medical family tree can be a lifesaver," said Thomas, founder and president of the American Hemochromatosis Society, an advocacy group. "But you can't wait to talk to your older relatives. Tomorrow, they might be gone."

Genetic Footprints

Researchers have known for some time that genetics can play a key role in determining to which diseases each of us is susceptible. But only in recent years have scientists begun to understand how we can use those diseases to pinpoint the genes responsible. This, say geneticists, has brought us closer to treating and preventing many diseases.

Of the approximately 10,000 illnesses known to humankind, at least 3,000 are believed to leave genetic footprints. Those include heart disease, high blood pressure, leukemia, some breast cancers, ovarian cancer, Huntington's disease, multiple sclerosis, alcoholism, obesity, diabetes, osteoporosis, autism, psychiatric disorders and memory loss.

"When thinking of the biology of a gene, imagine a word," said Jeffrey Noebels, professor of neurology at Baylor College of Medicine in Dallas. "When there is a mutation, that's like a misspelling, and the body can't read the word properly." Disease-causing mutations can be produced by a flawed gene or group of genes or by a gene that makes its owner more vulnerable to environmental factors that can bring on the condition.

According to Russo, public awareness about all things genetic was elevated during last year's press coverage of the Human Genome Project, a research program designed to localize, identify and map each of the estimated 30,000 to 50,000 genes that make us human. That, plus the unfolding realization in the medical community that many of today's health problems can be attributed to genetic mutations.

"We used to think of genetics as the realm of diseases that came from a single gene, like muscular dystrophy or PKU in infants," said Russo. "But now we know there's a genetic component to many of our health ailments."

Family Suspicions

The world of medical-pedigree making has piggybacked onto this recent explosion of interest in genetics.

Douglas Peterson, an internist with the Mayo Clinic in Scottsdale, Ariz., and an editor of the Mayo Clinic's Web site, said he's seeing more and more patients show up in his office with a detailed family history already in hand. "If it dawns on you that a few relatives have died of the same type of cancer, or more than one had a heart attack," Peterson said, "then the interest is sparked."

Genetic counselors urge genealogy buffs to seek medical insights about their relatives with no less diligence than they pursue other historical information.

"People spend all this time getting genealogy records – where their grandparents were married, buried – but they don't ask what they died from," said Robin Bennett, president-elect of the National Society of Genetic Counselors, and author of "The Practical Guide to Genetic Family History" (John Wiley & Sons, 1999). "If you're going to all that trouble, you might as well go all the way."

Bennett said she began writing "The Practical Guide" when she realized there was no "cookbook" on the topic for medical professionals – even though, to her mind, knowing how to scrutinize a family history is as important as knowing how to read a biopsy specimen. "The genetic revolution happened so quickly, most doctors educated 15 or 20 years ago aren't up to date on it all," said Bennett. "Back then, genetics was just something that happened to fruit flies."

The next step, she said, is winning more physician support – convincing doctors of the importance of recording even more detailed family histories than they already do.

If patients show up with pedigrees in hand, all the better.

"There's quite a push from the medical community to say, 'I don't have time to take this information down. It would be much more useful for people to show up with it,' " Bennett said. To that end, the American Medical Association (AMA) offers a detailed form on its web site that patients can print out and complete before they go to the doctor.

Sometimes you have to go much deeper than simple oral histories to complete a pedigree, as the ASHG's Boughman is well aware. To pinpoint family patterns of breast cancer – her mother died of it, and both her sister and cousin had an early onset of the disease – the three have all sought medical records of living and deceased relatives. In the early 1990s, though, they realized a vital piece of information was missing.

Boughman's cousin, then 37, had just been diagnosed with breast cancer. To ascertain which treatment was best, she needed to learn what kind of breast cancer Boughman's deceased mother, Lydia, had had. With the consent of Boughman, her father and her two sisters, the pathology department of the Indiana hospital that had operated on Lydia released a tissue sample from her tumor.

Analysis showed that Lydia had had an estrogen-sensitive form of the disease. Since this was not the type of tumor Boughman's cousin seemed to have, she realized she needed to seek other treatment. "There's still some sort of common factor there; we just don't know what it is," said Boughman.

Online Help

The AMA is not alone in offering free online assistance to people making medical pedigrees. Recognizing an opportunity to improve their data collections, some disease advocacy groups are eager to trade know-how for information.

So far, the Epilepsy Foundation is out in front, eager to identify new genes it suspects may be linked to epilepsy beyond the 30 that are already known. To that end, it's encouraging people to build family trees using software on the association's web site. One year after the group set up the program – at a cost of about $150,000 – some 700 families have responded. Participants get a printed copy of their pedigree, while the foundation gets access to each person's family history, which it then encodes (to protect the family's identity) and shares with researchers.

"Our task was to get these families to come forward," said Noebels, author of the foundation's gene project. "When they do, they're really contributing to the future of research; they're really saying, 'Let us help you find the gene.' "

Other disease foundations have plans for similar Web-based efforts.

Meantime, several advocacy groups offer online guidance with building family trees. Those include PXE International Inc., an association for people with the connective tissue disorder Pseudoxanthoma elasticum; the ARPKD/CHF Alliance, dedicated to people with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis; and the American Hemochromatosis Society.

Roadblocks

Not every journey into family medical history yields useful answers. Sometimes seekers find more brick walls than open doors.

Tammy Ramsdell of Hardy, Ark., knows that firsthand. Ramsdell's husband Alan has had epilepsy since age 6 – but since his father died when Alan was 2 and his mother didn't stay in touch with his father's side of the family, he had no idea how far back in his family the disease lurked or how likely he was to pass it on. When the Ramsdells decided to start a family themselves, two doctors assured them they wouldn't have epileptic children.

"They told us it came from the mother's side," remembered Ramsdell.

According to Cara Schmitt, the genetic counselor who heads up the Epilepsy Foundation's online projects, studies have shown that mothers are twice as likely as fathers to pass on epilepsy to their unborn children. Schmitt said researchers still don't know why this is. But she added that, since epilepsy doesn't always come from the mother's genes, Ramsdell received some poor counseling.

Indeed. When the Ramsdells' first daughter reached age 12, she had her first grand mal seizure. Doctors put her on medication for epilepsy, but her medicine wasn't working the day she went to visit a friend who lived on a lake. That afternoon, two months after her diagnosis, Nikki had a seizure in the water and drowned.

A few years later, Tarah, the Ramsdells' second daughter, had her first grand mal seizure.

When the couple first met many of Alan's relatives at around that time, there came a revelation: Several of Alan's relatives had epilepsy. Soon after that, they attended a family reunion and spoke to many of them about their shared condition.

Finally the information was coming together and Ramsdell was sure it would help her find answers about the gene that had caused her family so much anguish. Did the family carry a gene for the disease that was different from other epilepsy genes, causing the father to be more likely to pass it on rather than the mother? Was one drug better than the rest for this kind of epilepsy? Were there preventive measures that could help her remaining kids – and the children they might eventually bear? Could information about her family help find a cure?

Ramsdell remembered seeing an Epilepsy Foundation pamphlet in the neurologist's office where she took her first daughter. She got on her computer, sought out the foundation and quickly learned of the Gene Discovery Project. Ramsdell entered what she knew about her family tree onto the site. Soon, researchers at Baylor got in touch with her and said they'd like to study her family. But when Ramsdell wrote to her husband's relatives and asked them to cooperate with Baylor, some wouldn't do it. Even after the researchers approached them directly, they still balked.

"For them, there's a stigma," Ramsdell said. "They used to put people with epilepsy in insane asylums. They're just so embarrassed by it." Ramsdell is sympathetic – up to a point: "On the other hand, we really need to get this figured out," she said.

Researchers are still trying to contact the Ramsdell elders so that they can study family bloodlines in a comprehensive way.

Meantime, her third child, a 16-year-old son, is showing mysterious symptoms and was whisked to the emergency room recently with extreme lethargy. A precursor to epilepsy? Doctors in Hardy don't know.

Ramsdell's story didn't surprise Yank Coble, president-elect of the American Medical Association. Coble, 64, said he remembered that when he was growing up in North Carolina, people didn't want to talk about diseases like cancer or epilepsy. "Among some, there was fear that these health problems occurred as retribution for something you did wrong," he said.

But today, Coble said, people – especially young people – are more likely to realize that the more they divulge about their health, the more they can help their family members. That bodes well, he said, for future research.

As does new interest in investigating what lurks in your medical family tree. At the Epilepsy Foundation, Noebels predicted the greater interest he sees is only the beginning.

"This," he said, "is the drumroll before the explosion."

FAIR USE NOTICE: This page contains copyrighted material the use of which has not been specifically authorized by the copyright owner. Global Action on Aging distributes this material without profit to those who have expressed a prior interest in receiving the included information for research and educational purposes. We believe this constitutes a fair use of any such copyrighted material as provided for in 17 U.S.C § 107. If you wish to use copyrighted material from this site for purposes of your own that go beyond fair use, you must obtain permission from the copyright owner.