When are genetic tests on infants ethical? – webcast

A conference held this July in Seattle on the ethics of genetic testing of newborns and children is now available online at UWTV’s website.

The 2008 Pediatric Bioethics Conference brought together some of the nation’s top ethicists to talk about the controversies involved in testing newborns and children for genetic conditions even when there might be little in the way of treatment to offer them.

The conference can be viewed online or downloaded to your MP3 player or iPod from UWTV.

The conference was sponsored by Seattle Children’s Treuman Katz Center Treuman Katz Center for Pediatric Bioethics

Currently, babies born in Washington state are now be tested for 25 inherited diseases before they leave the hospital. The tests are mandatory.

The state has had a screening program to test newborns for rare genetic disorders since 1977, and all the conditions tested for are treatable.

The tests are performed from a small drop of blood collected with a prick of the baby’s heel shortly after birth.

The goal of the testing is to detect rare genetic disorders that can lead to disease.

In diseases tested for in Washington can be prevented or at least ameliorated by early treatment.

A condition called, phenylketonuria, or PKU, for example, can cause brain damage if untreated, leaving the child severely mentally disabled.

Children with this condition are unable to metabolize an amino acid in protein called phenylalanine.

Ordinarily, the body converts this amino acid to tyrosine, a molecule the body can then use for various purposes.

But in children with PKU the enzyme that converts phenylalanine to tyrosine is defective.

As a result, phenylalanine levels build up in the blood leading to damage to brain and nerve cells.

However, it is possible to prevent or at least reduce the brain damage by restricting the amount of phenylalanine in the diet.

To be effective, though, diet needs to be started shortly after birth. So early detection is important.

However, unlike Washington, some states have newborn screening programs that test for conditions for which there is no effective treatment.

Some experts to question whether mandatory testing for untreatable conditions is ethical.

They argue that because there are no effective treatments, mandatory screening forces the infant to undergo testing even though there is no clear benefit for the child.

Ethicists generally argue that to subject someone to a test there should be at least some potential benefit for them.

If the purpose is just to gather information about the disease, then the testings is a form of research, these critics argue, and it is generally considered unethical to force anyone to participate in research without their or their guardian’s consent.

Proponents of such testing, on the other hand, contend that the risk of the test is minimal and there are benefits even when the disease is untreatable.

For example, knowing that your child has a condition that will cause illness and disability later in life can help you to plan and prepare for the day when the disease starts causing problems, they argue.

To learn more:

• Visit the Washington State Department of Health Newborn Screening Program’s website, which has a list of the conditions being tested and a FAQ for parents.
• Visit the National Library of Medicines information page on newborn screening.
• Read the supplement on the bioethics of genetic testing of newborns in the journal Pediatrics (go to the bottom of the page to find the supplement’s table of contents).
• Visit Seattle Children’s Treuman Katz Center for Pediatric Bioethics.
• To view or download the webcast of the conference go to UWTV.

Tags: Inherited Diseases, Newborn Genetic Testing, PKU

Category: Diabetes, Ethics, Genetics & Birth Defects, Newborn and Infant Health, Seattle Children's