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Geneticist compiles hopeful book of knowledge for patients

By Hope Green

Case study: a male patient in his 20s is apparently healthy, but is worried about his cancer risk. His mother has a brain tumor, his maternal grandmother died of kidney cancer, and his maternal aunt had an eye tumor.

	Aubrey Milunsky. Photo by Albert L'Étoile

The young man meets with BU geneticist Aubrey Milunsky, who orders DNA mutation analyses on him and his mother. The blood tests confirm what Milunsky suspected: an inherited condition called von Hippel-Lindau disease, which affects the brain, kidneys, and eyes. Meanwhile, an ultrasound exam reveals a malignant tumor on one of the man's kidneys. Surgery is scheduled immediately and the tumor is removed; fortunately, the cancer has not had time to spread.

Moral of the story: knowledge can save lives.

An account of the case appears in Milunsky's new book, Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life (Perseus Publishing, 2001). Milunsky, a School of Medicine professor and founding director of BU's Center for Human Genetics, says the purpose of the book is to help the layperson comprehend the role heredity plays in health and to explain the lifesaving potential of genetic information.

"People have a feeling that they've got their genes, they are preordained to have whatever comes, and they can do nothing about it," he says. "This book is dedicated to the proposition that that's not so. Living with our genes, we can, indeed, take action that will affect our lives and our health."

As scientists continue work on the Human Genome Project, a massive effort to decipher the entire human genetic code, genetic mutations linked to specific diseases are coming to light at a rapid pace. This work is gradually translating into real benefits for the public, but not as quickly as Milunsky would like.

"The lack of foundation that most physicians have to understand the new genetics, and the little incentive that exists to encourage their learning, means that it would take many years before the public would benefit directly from this new knowledge if their own doctors were their only source," he says. "Educating the public at large will result in their own physicians having to find the information or to make appropriate referrals. One key aim of this book is to inform the layperson directly about areas of risk, options, remedies, and preemptive lifesaving treatment that they may never otherwise hear about."

There are now tests for hundreds of different gene abnormalities. People who test positive and catch a problem early enough can take preventive measures. They can use their findings to inform family members of their risk. They also can determine the odds that they will pass on a defective gene to their children.

Your Genetic Destiny ranges across the entire field of medicine, explaining the genetics of such conditions as heart disease, cancer, diabetes, hypertension, and mental illness. Initial chapters offer a primer on basic genetics and genetic disorders. Milunsky lists ailments found to have an ethnic component, such as sickle-cell disease (common in those of African descent) and familial Mediterranean fever (prevalent in those of Armenian, Turkish, Arabic, and Sephardic Jewish ancestry). Later chapters advise the reader on what to expect from genetic counseling, discuss the latest advances in prenatal diagnosis, and outline genetic disorders that may affect or complicate pregnancy.

The book also describes preventive measures, such as dietary changes and the use of vitamins and medications, that may counter a genetic propensity toward a particular disease. Increasing numbers of women who test positive for a breast or ovarian cancer gene have opted to have healthy tissue removed to avoid the anguish their cancer-stricken relatives have endured. Milunsky neither advocates nor discourages this practice, drastic though it might seem.

"A woman's choice to surgically remove both breasts as a preventive maneuver is extraordinarily difficult and very personal," he writes. "Such decisions should not be made in haste but only after extended discussions with the physicians involved. Many would also recommend consultation with a mental health professional."

Milunsky, who is board-certified in internal medicine and pediatrics as well as clinical genetics, is one of the world's foremost experts on genetic disorders and inherited disease. The American Medical Association did not recognize clinical genetics as a specialty until 1982, but Milunsky was interested in the field long before then. In the late 1960s, while working at Massachusetts General Hospital, he established one of the first laboratories in the nation for prenatal diagnosis.

"It was considered revolutionary because you could tell the chromosomal status of a fetus," he says. "Over the years chromosome analysis became increasingly sophisticated, and more recently, especially within the last 10 years, opportunities to analyze genes and their mutations have become common." One of the largest facilities for DNA testing is the Center for Human Genetics, which Milunsky founded in 1982. The center provides tests for more than 58 different mutations and receives blood samples for analysis from around the world.

Even so, Milunsky believes the medical profession has a long way to go in incorporating an awareness of genetics into routine care. Ideally, he says, physicians would take a full family medical history from every patient, including the ailments of parents, grandparents, siblings, aunts, uncles, and cousins, and update it annually. Using this information, they could prescribe appropriate screening tests.

But doctors are seldom so thorough, and patients often must work hard to ferret out health facts from blood relations.

"Inter- and intra-family communications are distressingly poor," Milunsky says. "It's staggering to think that enormous numbers of people have no idea about health problems in their extended families."

While optimistic about the future of clinical genetics, Milunsky, a past president of the American Society of Law and Medicine, does not discount public fears that the technology could be misused. He has written widely on ethics, and a chapter of his new book addresses the potential for discrimination by insurers and adoptive parents, among other issues.

Ethical dilemmas are a hazard of the profession, and sometimes the clinical geneticist becomes an intermediary in painful family decisions. Milunsky has seen cases of identical twins where each has a 50 percent risk of inheriting a fatal neurodegenerative disease, such as Huntington's. One twin wants be tested to find out for sure; the other would prefer not to know.

"What does one do with that tension?" Milunsky says. "If you tell the first twin, even by that twin's actions it will be clear to the other twin what the information was.

"So you can understand how problematic that is, because the clinical geneticist is not a policeman. Genetic counseling is defined as a communication process where we are aiming to inform and educate our patients about all the opportunities available, and help them work through the problems they perceive. They must come to conclusions and decisions themselves, not directed by any physician."

For more information on BU's Center for Human Genetics, visit www.bumc.bu.edu/Departments/HomeMain.asp?DepartmentID=118.

7 September 2001
Boston University
Office of University Relations