Congress mulls screening standards

Key Points

New legislation in Congress would turn a federal advisory committee on heritable disorders into a panel for ongoing decisions on which newborn disorders should be screened.

The Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children was created in 2003. It makes recommendations on grants and projects to help states and public health agencies improve screening, counseling, and health care services to newborns and children who have or are at risk for heritable disorders.

Last month the Senate Health, Education, Labor and Pensions committee sent S. 1858 to the Senate floor. The bill would, among other things, mandate that the committee make systematic evidence-based and peer-review recommendations on matters including the heritable disorders for which all newborns should be screened, including secondary conditions. The advisory committee would also a model decision-matrix for newborn screening program expansion."

In 2004, the American College of Medical Genetics, at the request of the Health Resources and Services Administration, identified 29 core conditions for which it recommended that all newborns should be screened. According to the March of Dimes, 15 states and the District of Columbia currently screen for all of those conditions. Some states screen for as few as four, and others for more than 29.

Rodney Howell, MD, chair of the heritable diseases advisory committee, said the proposed legislation will allow that panel to bring together expertise nationally on an on-going basis, at a level which no state can do on its own. The disorders recommended for screening will likely continue to change, Howell, a professor of pediatrics at the University of Miami, indicated. "These conditions are very rare. We are learning about them all the time."

Another provision would create an information clearinghouse to maintain quality indications, such as false positives rates, as determined by the advisory committee. The bill also calls for the Centers for Disease Control and Prevention to carry out quality assurance and technical assistance for the labs doing these tests, plus population-based pilot testing for new screening tools.

• Genetic screening

The era of genetic testing is upon us, a recent report to the federal government makes plain. But there are myriad questions about whether researchers, providers, or patients are ready for it.

A Secretary's Advisory Committee on Genetics, Health, and Society draft report, from the Office of Biotechnology Activities, says that "While current genetic tests may be applicable to about 2% of the general population, genetic testing in development promises future applicability for more than 60% of the population."

Even now, according to the draft "US System of Oversight of Genetic Testing," there are over 1,100 genetic tests offered by clinical laboratories. There is no official compilation of them. The report further cites newborn screening as an arena where many issues have been pioneered, and where some questions will continue to play out.

Among other potential problems, the committee cites:

For most of those 1,100 tests, there are no validated quality control materials publicly available, says the report. Therefore, "laboratories must improvise to obtain these reagents and, in some cases, develop and run assays without adequate controls."