New recommendations for screening and testing newborn children

New recommendations for screening and testing newborn children

New recommendations on testing and screening newborn children for genetic diseases have been published in the latest policy statements of the American Academy of Pediatrics (AAP) and The American College of Medical Genetics and Genomics (ACMG).

They believe that it is necessary to test all newborn children as it is in the best interest of their health, showing their support for mandatory genetic testing and screening.

Millions of newborns undergo genetic screening every year.

However, additional genetic testing after the initial screening is far less common.

Most additional genetic testing conducted after the newborn period is mainly carried out on children who show signs and symptoms of intellectual disability for diagnostic purposes.

Beyond the initial screening, the decision to carry out additional testing should rest on the parents, say the experts.

There were distinct differences between the recommendations for testing for childhood-onset conditions and testing for conditions that appear in adulthood. The experts encouraged testing children who are at risk of childhood-onset conditions, but discouraged testing for diseases or conditions that appear later in adulthood.

They also noted that when a child shows early symptoms of a disease, it is necessary to make a quick diagnosis and evaluate the best courses of action, guiding the family in making a decision for the best of the child.

In fact, according to a previous study published in the journal Pediatrics, the majority of parents would accept and embrace predictive genetic testing for their children if offered.

Even though these two reports discourage testing for adult-onset conditions, some experts believe that results concerning these conditions could help adjust lifestyle risks early on.

One of the policy authors, Dr. Lainie Friedman Ross, said:

"There is an important role for counseling before and after genetic screening. The focus should be on education of families, counseling them and helping them make decisions that focus on the child's best interest.

Clearly, if a child has symptoms, we need a diagnosis to help the family make clinical decisions that are in the child's best interest. This is important even when the disease has no current therapies."

Sometimes genetic testing can give incorrect results or interpretations; the ACMG suggests that a person who is certified in either Clinical Molecular Genetics (ABMG) or Molecular Genetic Pathology (ABPath/ABMG) should always review test results.

In addition, they state that pre- and post-test counseling should be provided to patients by an ABMG certified Clinical Geneticist or ABGC/ABMG certified Genetic Counselor.

In view of the rapid advances made in genetics and genomics, the authors stress that health care providers and pediatricians should always be informed on what the best new practices are.

What is newborn screening? Animated video for parents. (Video Medical And Professional 2020).

Section Issues On Medicine: Medical practice