Brandi Yates’ DNA held the secret to a normal life.
The 13-year-old Reinbeck girl, whose kidneys failed when she was 8, already had lost one transplant because her body’s immune system couldn’t stop destroying red blood cells.
Doctors weren’t likely to give Brandi another kidney for fear her body would kill it.
Brandi was facing a lifetime of dialysis, a three-times-a-week hospital procedure that robbed her of regular school hours, as well as swimming and showers, because she was not supposed to get water in her dialysis catheter. Long-term outcomes for kids on dialysis aren’t good.
Through genetic testing, researchers at the University of Iowa’s Molecular Otolaryngology & Renal Research Laboratory discovered last year that Brandi has atypical hemolytic uremic syndrome, a rare genetic disease that prevents the body’s immune system from working properly.
Armed with that information, doctors put Brandi on the new drug Soliris, which controlled her disease and made it possible for her to receive another kidney.
“Brandi was the first child in North America with atypical HUS to get a transplant with this drug,” said Dr. Carla Nester, a UI nephrologist.
“I’m a guinea pig,” Brandi adds with a smile.
Doctors around the world increasingly are studying patients’ genetics to pinpoint diagnoses and to craft specialized treatments that can make medicines more effective, avoid dangerous reactions and save time and money.
Scientists are still deciphering the roles of many genes. As these mysteries unravel, the potential for using genetic information in health care decisions is amazing and terrifying, doctors and patients said.
Crafting cancer cures
Family history always has been a red flag for cancer. Doctors now can order tests to see if patients carry genetic mutations linked to specific kinds of cancer. In some cases, these tests are a doorway to more effective treatment.
“We’re getting to a molecular understanding of some of these malignancies,” said Dr. Tom Warren, an oncologist at the Physicians’ Clinic of Iowa in Cedar Rapids.
For example, chronic myelogenous leukemia previously was treated with drugs and chemotherapy, followed by a bone-marrow transplant, Warren said. Now, when an oncologist discovers a patient has this type of leukemia, characterized by a specific genetic mutation, the patient can go on Gleevec. The drug kills only these type of leukemia cells and brings remission as long as the patient takes the drug.
Genetic testing also can provide better preventive care.
For example, a woman whose mother and grandmother developed breast cancer at an early age might choose to have a genetic test for the gene mutation linked to hereditary breast cancer. If she has it, she could have earlier mammograms and a breast MRI, said Julie Thompson, a registered nurse who does genetic counseling for St. Luke’s Hospital in Cedar Rapids.
“It could save someone’s life,” Thompson said.
Doctors who use genetic testing say it also could save money for America’s health-care system.
While Gleevec costs $32,000 to $98,000 a year, it could help patients avoid a $150,000 bone marrow transplant and the costs associated with complications from the transplant.
“Every hospitalization you’re preventing, every side effect you’re preventing, it very well could be saving money,” Warren said.
The Soliris infusion Brandi gets every two weeks costs more than $9,000 per visit, or $18,000 a month. Dialysis would cost less, at about $12,000 a month, but the long-term costs if Brandi’s health declines also would be a factor.
Genetic testing has been part of assisted reproduction since the 1980s.
Doctors take a cell or two from the embryo to look for genetic mutations that may cause inherited diseases or decrease the likelihood of a successful pregnancy. They then implant into the woman’s uterus only the embryos that do not carry such genetic markers.
Some American clinics have gone a step further and let parents choose the gender of their baby.
“The dream of a child of a certain gender, be it female or male, has been with us forever,” proclaims the website of the Center for Human Reproduction in New York City. “Until recently, however, selecting a baby’s gender was really only a dream.”
The New York clinic and others will do genetic tests to learn an embryo’s gender and then implant only embryos of the desired sex. New technology called sperm sorting allows clinics to weed out the sperm of one gender, so the eggs only are fertilized by sperm of the preferred sex.
These practices are promoted as a way for families to balance their brood’s gender, but many clinics don’t prohibit parents from using gender selection for their first child.
The UI Center for Advanced Reproductive Care is among clinics across the country that have chosen not to do genetic tests solely to determine gender.
“It’s another aspect to try to play God and control our futures,” said Dr. Brad Van Voorhis, an obstetrician-gynecologist and director of the center.
Van Voorhis and other doctors worry about parents pushing to choose their child’s other traits, such as eye color, hair color and even IQ. While the genes that control these features haven’t been sorted out, the lack of laws or ethical standards relating to in-vitro fertilization gives a lot of license to individual clinics.
“Having a child because you want to raise a boy or girl undermines the traditional commitment of parents to accept children based on their inherent worth,” said Dr. Robert Brzyski, an ob-gyn at the University of Texas Health Science Center and the ethics committee chairman for the American Society for Reproductive Medicine.
The committee will discuss this month whether to update a 1999 statement, concluding that doing in-vitro fertilization just for gender selection should be discouraged. Even if the group adopts a tougher stance against gender selection, there are few ways to enforce a ban, Brzyski said.
Will information hurt us?
Another unknown for genetic testing is how insurance companies could use the information.
The Genetic Information Nondiscrimination Act of 2008 prohibits discrimination in health coverage and employment based on genetic information. This means your insurance carrier can’t deny you health insurance if it learns you are genetically predisposed to, say, heart disease.
The federal law doesn’t prohibit the use of genetic information in life insurance and long-term care insurance decisions, though.
If a life-insurance applicant has high risks for cancer, an insurance company might not approve the policy or could charge a higher premium. Long-term care insurers could pass up a customer who has a genetic marker for Alzheimer’s disease because caring for these patients is expensive.
“What makes genetic testing interesting is that there can be false positives and negatives for certain diseases,” said A. Frank Thompson Jr., a University of Northern Iowa finance professor who studies risk and insurance. “Just because you’re genetically predisposed, doesn’t mean you will get that.”
The American Council of Life Insurers, which represents more than 300 U.S. life insurance companies, said the industry isn’t quick to embrace new advancements as part of underwriting.
“Companies tend to look to factors that, over time, have shown to be reliable indicators of a person’s risk of premature death,” the group’s spokesman Whit Cornman said by email.
“We cannot speculate on what new factors life insurance companies will include in their underwriting, but it’s important to keep in mind that life insurance companies are in the business of selling life insurance policies, and they have every incentive to insure as many people as possible,” Cornman said.
Joann Boughman, executive vice president for the American Society of Human Genetics, doubts insurance companies will start rejecting large groups of people because of genetic predispositions. In the evolving field of genetics, maybe everyone has a predisposition for something, she said.
“We have some faith in our colleagues to do the right thing,” Boughman said.
Testing still evolving
The UI’s Molecular Otolaryngology & Renal Research Laboratory, which started doing genetic screening for kidney disease five years ago, received about 900 requests in the past year for these tests.
That means 900 patients, mostly young people, waited for the lab to pinpoint problem genes so doctors could decide whether to give the patients kidney transplants, said Tara Maga, a doctoral candidate who works in the lab.
“If they can’t get a kidney transplant, they have to stay on dialysis or they have to do a more complicated surgery, which is a kidney-liver transplant,” Maga said.
The UI lab is the only one in the country and one of a few in the world that focuses exclusively on two rare, but potentially devastating kidney diseases — atypical hemolytic uremic syndrome and dense deposit disease. The lab staff screens blood samples for seven known genetic mutations, as well as irregular numbers of genetic copies and functional problems with the immune system.
Forty percent of the blood samples come up with no known genetic match. These patients are offered a chance to be part of UI research studies to see whether variants in 86 other genes may contribute to their kidney disease.
“The more patients that opt in, the greater the chance of finding the causes that are yet unknown,” said Nicole Meyer, a research assistant in the lab.
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