A Pandora’s box of genetic information exploded wide open when the human genome was mapped in 2003. Since that moment we have ever-increasing access to information that grows with every newly available genetic test and each new understanding of the genetic underpinnings of disease and health. According to the bioethics community, a little knowledge can be a dangerous thing. The Treuman Katz Center for Pediatric Bioethics at Seattle Children’s Hospital recently hosted its fourth annual international pediatric bioethics conference in Seattle: “Predicting Our Future: Genetic Testing in Children and Their Families.”
Nationally known bioethicists discussed many controversial and ethical implications of genetic testing in children, including expanding mandatory newborn screening, testing children for risks of adult-onset diseases, carrier testing, how genetic test results impact families, physician duty to warn others of genetic information that may impact them, testing prior to adoption, advances in testing, and why the burden of genetic information often creates special difficulties for the youngest patients, their families and medical providers.
One of the most well-known forms of genetic testing is mandatory newborn screenings, which currently lack federal oversight and are managed by each state. Wide variations in this testing exist throughout the United States; nine states currently test for more than 50 genetic diseases, while others test for fewer than 10. Many are currently adding diseases to their newborn screening panels, considering new tests as they become available. Washington state recently added 14 new diseases to its newborn screen. Typically these tests are performed one or two days after birth using a quick heel stick blood draw, and include testing for diseases that currently have treatments available or benefit from early awareness of the condition, such as Sickle Cell Disease, congenital hypothyroidism and Phenylketonuria (PKU). For many bioethicists, it is controversial whether or not to routinely screen all newborns for conditions we may not yet be able to treat, capturing genetic information for research or future registries in the event treatment later becomes possible.
In general newborn screening is mandatory, though in some cases parents have been able to opt out. Many new parents are unaware that their baby is receiving these tests, and may be notified by their physician only when a questionable result appears. Bioethicists have related concerns about whether consents should be obtained for each test, as well as whether testing should be uniform from state-to-state. A variety of opinions were expressed at the conference, as experts weighed in on these questions.
“We need to expand newborn screenings to include those genetic diseases that don’t currently have treatments, and place those individuals found to be at risk into research registries. We need a culture shift from current thinking that we don’t test for what we can’t treat,” stated Duane Alexander, MD, director of the National Institute of Child Health and Human Development at the National Institutes of Health. “We also must make newborn screening programs comparable across all states. We have preventable diseases we can screen for, but states aren’t consistent in testing. What do we tell the mother of a young boy who suffers a devastating, brain-wasting genetic illness in one state, when, if only her son had been born 100 miles away in the next state, he would have been routinely tested at birth, diagnosed, and treated? Due to state differences in newborn screenings he suffers because of where he was born. That’s a heartbreaking conversation.”
In stark contrast, Norm Fost, MD, MPH, director of the Program of Medical Ethics at the University of Wisconsin, argued, “We don’t want all states to have the same newborn screenings. State-by-state variability is good, because that’s how we’ll learn and evolve as genetic testing increases. Do we want genetic testing in newborns to explode uniformly like a house on fire? Considering testing should be an individual value judgment, for patients and families to decide.”
At the conference, pediatric bioethicists maintained that young children are not simply small adults, nor should they be subject to the wishes of their parents just because they are offspring. But at what point should mature minors begin weighing in on medical choices that affect them?
Direct-to-consumer marketing of genetic testing was another hot issue. Access to online, home and mail-order tests marketed to consumers is bringing many of these questions to the forefront for bioethicists. To date, there is no formal infrastructure in place to assist families in wading through the quagmire of genetic information.
“Marketing genetic testing directly to consumers is irresponsible,” said Lainie Friedman Ross, MD, PhD, associate director of the MacLean Center for Clinical Medical Ethics at the University of Chicago. “Families must have access to an entire system of genetic counselors, physicians, policy advocates and more to walk them through this murky information that is fraught with so many pros and cons, and so often leads to very difficult decision-making processes.”
Ambiguous test results that don’t point toward any clear action can cause great patient and family anxiety, often leading to more tests, procedures and treatments that can be risky and costly. Genetic testing can increase this dilemma, because we can test for many genetic conditions for which there currently is no treatment. Some genetic tests can also lead to “false positive” results or incidental findings that families and physicians will feel the need to pursue.
“The fact that we can test for hundreds of genetically-linked diseases from a single dried blood spot doesn’t mean that we’ll know what to do with all that information,” said Doug Diekema, MD, MPH, director of education for the Treuman Katz Center for Pediatric Bioethics at Seattle Children’s Hospital. “When considering genetic testing of children for adult-onset diseases in particular, we need to know whether there is any clear medical benefit to the child as a result of having test results early. If not, it may be best to wait until the child is old enough to make their own choice, to protect their individual right not to know and also to decide for themselves.”
In an emotional discussion of their own medical stories, mother and daughter Rebecca and Kate Fisher revealed personal insights gained from their long family history of related cancers, as well as Kate’s test results for the BRCA+1 mutation, an indicator for breast cancer risk.
“We need to look at what this genetic information teaches us about ourselves, and who will be there to guide us in making the difficult decisions that result from the information,” said Rebecca Fisher, a breast cancer survivor and Kate’s mother. “Genetic testing gives us information, but doesn’t tell us what to do with it. Bioethics exists in the nexus where data meets life.”
“Children carry experiences with them in ways that adults—their parents, friends, relatives and doctors—can never grasp,” said Kate Fisher, who chose at age 18 to receive the BRCA+1 test and learned that she tested positive for the same gene mutation that likely caused her mother’s cancer, as well as related cancers throughout their extended family history. “For this reason, genetic test results will never be received in two identical ways by any two people, no matter how similar their backgrounds. For me, knowing my genetic test results enables me to choose certain paths and take steps to ensure my future health.”
One point of agreement among conference speakers was that patients, families, physicians, genetic counselors, researchers, policy makers and governments will all certainly need more education, support and infrastructure to deal with the growing onslaught of increased genetic information.
“As the range of genetic tests expands further into more diseases for which we have no treatments, we must consider whether many of these genetic tests have merit,” added Benjamin Wilfond, MD, director of the Center. “We particularly need to look at the extent to which new testing technologies will shift the role of parental discretion in the offering and use of genetic testing in children.”
For more information about the conference speakers, agenda or to view archived conference sessions, please visit: Pediatric Bioethics Conference agenda.
The Center’s next annual pediatric bioethics conference is scheduled for July 24 and 25, 2009, and will address ethical issues in adolescent health care.
About Seattle Children’s Research Institute
Located in downtown Seattle’s biotech corridor, Seattle Children’s Research Institute is pushing the boundaries of medical research to find cures for pediatric diseases and improve outcomes for children all over the world. Internationally recognized investigators and staff at the research institute are advancing new discoveries in cancer, genetics, immunology, pathology, infectious disease, injury prevention and bioethics, among others. As part of Seattle Children’s Hospital, the research institute brings together leading minds in pediatric research to provide patients with the best care possible. Seattle Children’s serves as the primary teaching, clinical and research site for the Department of Pediatrics at the University of Washington School of Medicine, which consistently ranks as one of the best pediatric departments in the country. For more information, visit http://www.seattlechildrens.org/research.