Genetic testing of kids could pose a dilemma

Would you want to know if condition is incurable?

By PAUL NYHAN
P-I REPORTER

Would you want to know if your toddler is more likely to develop Alzheimer's?

In the next two decades, parents are expected to have new options to test their children for genetic traits that raise the odds they will contract any number of conditions, such type 2 diabetes, depression and possibly autism, experts suggested last week.

Those breakthroughs are expected to push parents deeper into the ethically fuzzy world of genetic testing, where there appear to be more questions than answers.

Do you test a newborn for a disorder that has no cure? Does a child, or her parent, need to know she carries the gene that makes her susceptible to breast cancer?

A "core piece of advice is you shouldn't do genetic testing just because it's available," said Dr. Douglas Diekema, who works on pediatric bioethics at Seattle Children's Hospital and Regional Medical Center. "If there is a test (that) came back positive, what would be the benefit for my child? Is there something we could do?"

Children's Hospital is near the center of this debate because it's home to one of the country's few organized centers for pediatric bioethics.

It sponsored a conference on the topic last weekend.

At the center, doctors work with geneticists, genetic counselors and policymakers to understand the rapidly evolving area and help with specific cases.

Researchers across the country are grappling with emerging challenges of genetic testing.

Six years ago, most states screened newborns for a handful of disorders,and today most screen for 29.

Washington screens for 24 disorders, including phenylketonuria and cystic fibrosis, and will add a 25th by the end of August.

While tests are largely mandatory – some parents may opt out for religious reasons – in coming years parents may face decisions of what or whether to test for other disorders, if testing is expanded.

It will create yet another level of knowledge for a generation of parents already coping with a mother lode of information.

"There is so much information out there, there is the danger of misinformation and information overload," said Mirtha Wilkens, a media project manager for Children's Hospital, who is expecting her second child this fall.

In the next couple of years, doctors may begin expanding tests by adding disorders that can't currently be treated, such as Duchenne muscular dystrophy and spinal muscular atrophy.

The move would represent a major shift because babies currently are mainly tested for treatable genetic disorders.

As parents of two adopted children, Andy and Pam Heyman see the benefit and ambiguity of pediatric genetic tests.

When the South Seattle couple adopted their two children, they had to decide if they would accept a child with sickle cell anemia – a tested condition – during the process.

They said yes and their 9-year-old daughter, Josie, has sickle cell, while 4-year-old Adam does not.

Yet, Andy Heyman, 38, isn't not sure he would embrace tests that may emerge unless there is compelling evidence that parents can do something about the condition.

Heyman also worries about how institutions would use genetic test results.

"If choice rests with individuals, I am much more comfortable than if it's (in the) hands of institutions," he said.

Expanded newborn testing could create a new set of worries and opportunities for parents. They will receive more false positives if there are more tests and get called back for anxious second tests.

Some parents may want to know about incurable disorders so they can adjust their lives, and more diagnoses might create more research opportunities and potentially treatment breakthroughs, experts said at last weekend's conference.

If parents are going to be confused, scientists already are grappling with their own ethical confusion.

For example, researchers are uncovering genetic flaws that might be evidenceof cystic fibrosis. And they may not be.

In a child with no symptoms, they see genes that are not quite normal, yet not typical evidence of cystic fibrosis, according to Dr. Beth Tarini, a research investigator at University of Michigan's Child Health Evaluation and Research Unit.

"You are left telling the parents 'I am not sure if your child has cystic fibrosis,' " Tarini told a room full of researchers during last weekend's conference.

If doctors and researchers are conflicted, what are parents supposed to do?

In the information age, parents have resources, but they should beware because the quality of online genetic testing guides varies.

"I think as a general rule that (sites) either sponsored by NIH (National Institutes of Health) or academic institutions are the most likely to be reliable," said Children's Hospital's Diekema.

Of course, your best source often is your family's doctor, Diekema suggested.

In the uncertain field of pediatric genetic testing one thing appears certain: It will add another level of worry to the often anxiety-ridden job of parenting.

"Becoming a parent there is enough to worry about," Andy Heyman said.