Five drops of blood: Invasion of privacy?

About 24 hours after a baby is born in Minnesota, a hospital nurse pricks a heel and squeezes five drops of blood.

Three blood spots go straight to a state Department of Health lab in St. Paul. Two spots are sent by courier to the Mayo Clinic in Rochester. Within days, the family will know if the child has one of more than 50 rare hereditary conditions that can now be detected and treated.

For little Ella Madison, it may have made the difference between life and death.

Ella has cystic fibrosis, where mucus clogs the lungs and pancreas. Such kids can die from lung infections or starve because they can't absorb food. Because the disease was diagnosed at Ella's birth, she started daily drugs and nebulizers. A charmer with big blue eyes and a dazzling smile, she now appears to be a healthy, normal 19-month-old.

But the state screening program that likely saved Ella is now at risk as Minnesota becomes the battleground in the first big clash between genetics and privacy in the DNA age.

Why here? A confluence of factors: Minnesota screens newborns for more disorders than most other states. Minnesota also passed a law last year protecting the privacy of all genetic data. And Minnesota happens to be home to a very determined nurse-turned-privacy advocate, Twila Brase.

Brase leads a small but vocal group of privacy advocates who say Minnesota's newborn screening amounts to involuntary genetic testing, with unknown future implications for employment and insurance. Doctors and public health officials counter that it's a small intrusion that can save about 140 babies a year from death or serious disability.

Both sides say they're taking the issue to the Legislature next year.

Dueling interests

"We live in an age of predictive medicine," said Mark McCann, manager of the newborn screening program at the Minnesota Department of Health. That throws up challenges for ethicists and legal experts.

Should parents' consent be required before testing? Should the state ask parents' permission to store the blood spots for research? Who should have access? Who would profit?

"Newborn screening is newborn genetic testing," said Brase, president of the Citizens' Council on Health Care. "We do not yet know today how it could be used tomorrow."

Brase said she's not against newborn testing, but thinks parents should choose whether to do it. Doctors and health officials say Brase's individualistic approach imperils a mother lode of medical data they can use to improve the health of thousands and prevent untold suffering from undiagnosed genetic conditions -- without violating privacy.

Brase has the ear of some legislators. Rep. Mary Liz Holberg, R-Lakeville, who calls Brase a David against the Goliath of the medical industry, sketches this scenario:

"Five years from now, when there's a breach in the computer system, and 200,000 of your youngest residents have been compromised, you wouldn't want parents to be totally unaware that the state is storing this data. That's when we're going to be in really big trouble."

Doctors and health officials say they're baffled over how fear of the unknown can threaten a program with such clear benefits for children today.

"People watch too much TV," said Dr. Piero Rinaldo, who oversees the Mayo Clinic's newborn screening program. "It's CSI syndrome."

The tests target a specific number of conditions, Rinaldo said. "If you think I can extract DNA from a little drop of blood and find out everything about you, it's just not true."

Then there's the public health perspective. Testing newborns is like requiring car seatbelts or putting fluoride in drinking water -- a small inconvenience for a greater good, said David Orren, the Health Department's chief legal counsel. "The data in the hands of public health is very different from data in the hands of an identity thief or hacker."

The impetus for testing

Newborn screening has been around since 1965, but really exploded this decade with the advent of tandem mass spectrometry. The process allows a simultaneous test for a large number of genetic diseases.

Babies can initially appear healthy, but suddenly get very sick from these conditions, sending families on a medical odyssey to find the cause. Screening allows early intervention with drugs or special diets to ward off developmental problems or even death.

Between 2001 and 2006, Minnesota moved from screening five disorders to 53. This year, it added a hearing test. Minnesota is now among just a handful of states that test for the entire slate of conditions recommended by the American College of Medical Genetics.

What the state can't do itself is done at the Mayo Clinic. The health department charges hospitals and midwives $101 to test each baby and hospitals in turn charge health insurers.

Many of the conditions are very rare. Of the 72,000 babies born in Minnesota each year, just 140 have one of these disorders, says the Health Department. But for these babies, "early intervention makes a huge impact on the family and the kids and results in fewer hospital visits and dollars spent," McCann said.

Kathy Stagni knows firsthand what's at stake.

Her daughter, Melissa, was three days old when she fell into a coma. Doctors diagnosed proprionic acidemia, a rare shortage of amino acids for breaking down protein.

Melissa emerged from the coma with brain damage. Now 18, she has just graduated from high school in a special education program. She has an IQ of 60. (The average IQ is 100.)

Stagni has worked for years to expand screening, and babies are now tested for proprionic acidemia. She founded the Organic Acidemia Association and co-chairs the Health Department's Newborn Screening Advisory Committee.

For parents of a sick child, Stagni said, "privacy is the furthest thing from their mind."

What comes next?

Even as the debate continues, doctors are clamoring to add other diseases to the newborn screening test list.

Dr. Mark Schleiss, professor of pediatrics at the University of Minnesota Children's Hospital, is trying to get cytomegalovirus, or CMV, on the federal list. It is the second most common form of retardation after Down syndrome. A committee advising the U.S. Department of Health and Human Services will review such nominations in the next couple of years.

Schleiss doesn't buy the privacy argument. "If you don't screen, that child's never going to be employable or insurable," he said.

In the 2006 legislative session, Rep. Holberg, citing privacy concerns, tried to change the rule for newborn screening from opt-out to opt-in.

Health officials warned that many parents, caught up in the whirl of a new baby, simply wouldn't bother, and the number of babies tested would fall. The bill died in committee.

Last spring, partly in response, the Health Department tried to amend its newborn screening rules, spelling out how specimens are to be collected and what information hospitals have to give parents verbally and in writing.

During the public comment period, Brase raised another bill that did get passed, the Genetic Data Act of 2006, which covers a range of genetic privacy issues.

As a result, an administrative law judge ruled in March that parents must sign a separate form giving the department permission to keep the blood spots for research.

In August, the department abruptly withdrew the rule amendments, letting the original rules stand.

Rep. Phyllis Kahn, DFL-Minneapolis, who co-sponsored the genetic privacy bill with Holberg, called its application to newborn screening an "unintended consequence." Kahn and others say they expect legislators to hash out exactly how and when parents should give consent in the next session.

"We want to make sure hospitals are making information available on what happens to the blood sample," said Rep. Paul Thissen, DFL-Minneapolis, chair of the Health and Human Services Committee.

Thissen's son, Evan, has congenital adrenal hyperplasia, a disorder where the body doesn't produce enough of some vital hormones. The disorder was diagnosed at Evan's birth in 2003, just months after that condition was added to the screening.

"Maybe you have the conversation before you go to the hospital. ... There are points in time when you can address it," Thissen said.

A mom's realization

At home in Otsego, Minn., Ella Madison's mother has some thoughts on consent.

After Ella was born, Tara Madison said, she didn't even realize nurses had drawn blood until she read a blue slip in the baby's crib. Ella looked fine, but when the Madisons took her back to the hospital to weigh her, they were told she had tested positive for cystic fibrosis.

They were referred to the University of Minnesota. The first day, they spent eight hours meeting with doctors, genetic counselors and nurses.

Ella was put on a nebulizer and medications immediately. The Madisons learned how to pound her little chest to help loosen the mucus.

Tara Madison remembers being offered a genetic test for cystic fibrosis when she was pregnant, which she refused. After all, nobody in her or her husband's families had the disease.

She said she also would have said no if she'd been asked about newborn screening for Ella.

"Every parent thinks: 'Not my child,'" she said. Now she thinks it shouldn't be optional.

"It should just be done."

Chen May Yee • 612-673-7434

Chen May Yee • mychen@startribune.com