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Advocacy Groups Urge Reauthorization of HHS Newborn Screening Committee as Charter Nears Expiration

NEW YORK (GenomeWeb News) – The committee that advises the US Department of Health and Human Services on matters related to newborn screening for genetic diseases, and sets the newborn screening standards followed by many states, is set to expire in April and advocates are pressing to get it reauthorized.

The 10-year-old Secretary's Advisory Committee on Heritable Disorders in Newborns and Children advises the HHS on ways to address newborn and childhood genetic disorders, and its domain now involves issues left behind by the now-defunct Secretary's Advisory Committee on Genetics, Health, and Society.

The committee's efforts to develop the Recommended Uniform Screening Panel (RUSP) have had the largest impact among its activities to date. This panel recommends that every newborn screening program screen for 31 core disorders and 26 secondary disorders, and SACHDNC continues to consider adding screens for other disorders to its recommendation.

Before the commission launched, the number of diseases screened for and the quality of these screens varied widely between the states — some were screening for as few as four conditions while others tested for as many as 36, according to Genetic Alliance and the March of Dimes Foundation, who have teamed up to urge HHS to reauthorize the committee.

Now, 44 states and the District of Columbia require screens for at least 29 of the 31 of the treatable conditions listed on the RUSP.

Because new research into heritable disorders and new genetic screening tests are being unveiled often, newborn screening is a "dynamic field, constantly evolving and improving" that requires SACHDNC to constantly update and review its recommendations, Genetic Alliance and March of Dimes stated in a recent letter urging Health Resources Services Administration (HRSA) leadership to extend the committee.

Beyond the RUSP, the committee also advises HHS on grants and projects that are funded under the HRSA's Heritable Disorders Program, provides technical information to develop the HDP and to help state and local agencies provide screening, counseling, and healthcare services for newborns and children who are at high risk for heritable disorders, and offers advice that the HHS secretary can use to try to reduce mortality and morbidity from heritable disorders.

"There really is no other place at such a national level that really pulls together all of the stakeholders to actively and frequently discuss issues around screening and heritable conditions in children," Genetic Alliance's Vice President of Strategic Development Natasha Bonhomme told GenomeWeb Daily News yesterday.

"The committee has public advocates, it has ethicists, it has a range of different types of clinicians, and people from the newborn screening labs, and it is always looking to expand that … and really pull in a range of expertise into one place to discuss what we should be screening for, and how we should incorporate the expansion of genetic and genomic technologies into the care of newborns and children," she said. "And that really doesn't take place anywhere else."

In the short-term, Genetic Alliance and March of Dimes want HHS to bump up its next scheduled meeting to before April 24, when its charter expires, so that it can complete its evaluation of Pompe Disease, a rare genetic disorder that disables the heart and skeletal muscles, and determine if it will be added to the RUSP.

They also want HRSA to extend the term of the committee, using the authority of Section 9 of the Federal Advisory Committee Act and Section 217a of the Public Health Service Act, until its charter is reauthorized when and if Congress passes the Newborn Screening Saves Lives Act of 2013.

Lastly, they urged HRSA to appoint a designated federal official by the end of this month who will replace current DFO Sara Copeland, acting branch chief of HRSA's Genetics Services Branch, who will vacate the committee post.

It is unclear now if there is any chance that SACHDNC's charter, which was renewed in 2008, may be allowed to expire, but Bonhomme told GWDN that activities are underway at HHS to address the issue.

An HRSA spokesman today told GWDN that the agency cannot comment on the committee's reauthorization or the review process.