U.S. Rep. Patrick J. Kennedy, left, speaks with Dr. Francis S. Collins, keynote speaker at the fourth annual "Frontiers in Health Care" conference.

The Providence Journal / Mary Murphy Mary Murphy

Last week, James D. Watson, who helped discover the structure of DNA more than 50 years ago, became the first person to have his own DNA fully sequenced.

Watson’s genome cost $1 million to decipher, but technological advances are expected to lower the cost to $1,000, putting the process within reach for many people.

People will then be able to obtain detailed information about the glitches in their personal genetic code that make them vulnerable to conditions from diabetes to Alzheimer’s disease.

Are individuals — and is society — ready for this knowledge?

That was the question posed by Dr. Francis S. Collins, director of the National Human Genome Research Institute of the National Institutes of Health, at a conference on “The Personalized Medicine Revolution” at Brown University yesterday.

“Medicine is on the cusp of what could well be a revolution,” Collins said in a keynote speech, “Genomics, Medicine and Society.”

Advances are happening at a breakneck pace, he said. “I hope everybody gets a sense of what a remarkable opportunity we have here,” he said. “The major genetic risk factors for common diseases are going to be identified in the next two to three years.”

Those diseases include diabetes, cancer, heart disease, autism and Alzheimer’s. Already genes linked to macular degeneration and prostate cancer have been identified.

Having such genetic information enables doctors to better diagnose illnesses and to develop strategies to prevent them, most likely through lifestyle interventions. Genetic information also can predict who will react badly to certain drugs and who will be helped by them.

For example, Collins said, an effective AIDS drug has been rarely used because a small minority of people had severe bad reactions to it. But now that a genetic test can screen out the people who will be harmed by the drug, it can be safely used by the majority who will benefit.

But the hazards of genetic sequencing, Collins cautioned, are as great as the promise.

As science barrels ahead with genetic research, many questions remain: Do people want to know what imperfections lurk in their genes? Can they obtain this information without having it used against them by insurers or employers? Do their primary care doctors have the knowledge and the time to advise them how to make good use of the information? Will genetic information be available equally to rich and poor? And in the end, will people’s health improve? Will people be empowered by genetic information or “will we increasingly think of ourselves as hapless victims of our genotype?”

“Attention to ethical, legal and social issues is more important than ever,” Collins said.

Collins used the example of an imaginary 11-year-old girl named Betty to illustrate the fork in the road where medicine and society stand today.

Let’s say that in 2017 Betty, at the age of 21, learns that she has three gene variants that put her at risk for an early heart attack. She discusses it with her primary-care doctor, who understands the implications. Together they establish a prevention program of diet, exercise and medication, and Betty remains in good health for decades.

Then, at the age of 75, Betty feels a pain in her left arm. She thinks it’s probably from gardening, but her doctor, knowing her risk factor for heart disease, suspects a heart attack. He’s right. Betty goes to the hospital, where she is treated with drugs tailored to her genetic makeup. She goes on to live into the 22nd century.

Then Collins described the “nightmare” scenario. Betty never learns about her genetic risks. Her brother lost his health insurance after having his genome sequenced, so she’s not taking any chances. She lives an unhealthful lifestyle, gains weight and develops high blood pressure. Her doctor puts her on medication, but she has a bad reaction and stops taking it.

At the age of 50, she experiences pain in her left arm. Because she is still young and because no one knows of her genetic risk for early heart disease, her doctor diagnoses a musculoskeletal problem. She delays seeking care, gets worse, and dies in the emergency room at the age of 50.

For doctors and policymakers, Collins said, “The challenge is to save Betty.”

Yesterday’s event was the fourth annual “Frontiers in Health Care” conference, sponsored by the Warren Alpert Medical School of Brown University and U.S. Rep. Patrick J. Kennedy.

ffreyer@projo.com