New Guidelines on Genetic Screening of Kids Seek Bigger Role for Parents

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For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children.

Genetic screening is done more on children than any other group, with about 4 million newborns screened every year for nearly 40 metabolic and endocrine disorders including phenylketonuria (PKU), cystic fibrosis and hypothyroidism, as well as hemoglobinopathies, such as sickle cell disease.  Most states have adopted “the uniform panel,” although some states include a variety of additional conditions.

Despite gains in technology and the study of genetics, such guidelines had not been updated by either group in at least a decade.

“We now have geneticists, pediatricians and ethicists all in consensus about what are the best guidelines for genetic testing and screening of children,” said pediatrician Lainie Ross, MD, PhD, Carolyn and Matthew Bucksbaum professor and associate director at the MacLean Center for Clinical Medical Ethics at the University of Chicago.

Ross is the lead author of the policy statement, published by AAP, and the companion technical paper, published by the ACMG. The new guidelines were released on Feb. 21, 2013.

The two groups also were unified in their call for greater parental involvement in the genetic testing and screening of children.

Currently, genetic screening of newborns is mandatory and this has led to minimal or no engagement of parents.  Parents are often not told that screening is happening. When they are told, very little information typically is provided, even though they had the right to refuse screening in most states.

The new statement promotes “mandatory offering” of screening. A mandatory offer means parents must be informed that screening is available and should be provided with an overview of what will be screened for, the type of results they may get, the minor risks involved and the potential benefits if their child is found to have a disorder that requires immediate treatment.

After such education and counseling, parents then would be asked to give permission for screening. While there are no guidelines on what form that consent would take, it could be as easy as a verbal agreement to go ahead.

Lainie Ross, MD, PhD

“In our world, we want every baby to be screened.  The move from mandatory screening to mandatory offering is to engage parents, to make sure that parents know about screening and give permission for it,” Ross said. “If they say ‘no,’ the next step is not to say ‘OK’ but to engage in further conversation because refusal should be a very rare event given the high benefit-to-risk ratio.”

The inclusion of the words “mandatory offering,” as opposed to mandatory doing, reflects the level of respect owed to parents who are the primary health care decision makers for their children, Ross added.

Further, “if we involve the parents, and we get an abnormal result, the parents know what to expect. They know it doesn’t necessarily mean the child has a disorder, it just means we need to do further testing to determine if the results reflect a true diagnosis,” she said. “By involving parents, we show respect that the family knows what’s best for their children.”

Another departure from earlier practices involves predictive testing. Both groups used to be against the practice, particularly if the disease being tested for would not normally present until adulthood. Now, the AAP and ACMG offer a more nuanced approach, generally differentiated by whether the condition tested for would present in childhood or when the person is an adult.

Both groups agree that testing for conditions that would show up in childhood are permitted, even if testing is requested years before onset is anticipated.  When feasible, the child would assent to the test. Such a situation encourages education of both the parent and the child.

Conversely, the AAP and ACMG believe that testing children for adult-onset disorders should be deferred, unless intervention in childhood could reduce morbidity and mortality.

“An exception might be made for families for whom diagnostic uncertainty poses a significant psychosocial burden, particularly when an adolescent and his or her parents concur in their interest in predictive testing,” according to the policy statement.

Ross gives the hypothetical example of a teenage girl with a family history of breast cancer. The protocol to test for the BRCA1 or BRCA2 genes, a genetic link to breast or ovarian cancer, is generally five years before the earliest onset of the disease in a family member. So if the girl’s mother had breast cancer at 30, then doctors would test the daughter at 25.

A positive test result likely would result in the immediate start of regular mammograms rather than waiting until the normal commencement around middle age.

However, the teenager may want to know before middle age whether she is predisposed to cancer in order to decide to start a family in early adulthood in case she develops the disease later on and treatment could make having children difficult.

The call for active engagement with parents or guardians about newborn screening and predictive genetic testing means primary care physicians, such as pediatricians, will be on the frontlines when dealing with such issues, particularly because there are not enough trained genetic counselors and geneticists.

“Knowing that general and subspecialty pediatricians will need to play an integral role in educating, counseling and testing children for genetic disorders means that we need to ensure there’s good genetics education in medical school, residency, fellowships, and continuing medical education programs,” Ross emphasized.  “This means that pediatric health care providers have an obligation to keep up with changes and advances.”

The two groups were unified against routine carrier testing of minors, when such screening does not provide any benefits in childhood — and especially when the procedure is done in school.

“The AAP and ACMG advise against school-based testing or screening programs, because the school environment is unlikely to be conducive to voluntary participation, thoughtful consent, privacy confidentiality or appropriate counseling about test results,” the policy statement said.

On the other hand, for pregnant adolescents or those considering reproduction, testing and screening should be offered as clinically indicated, with the risks and benefits clearly explained.

“People should make reproductive decisions appropriately in the privacy of a doctor-patient relationship, in a clinical setting, and not in a schoolroom,” Ross said.

Despite the updated recommendations and guidelines, one thing has not changed, said Ross: “Like all decisions regarding children, the principle that should guide us is the best interest of the child. That’s the key point.”

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