The Claire Altman Heine Foundation operates a highly effective advocacy program aimed at altering public policy to implement a national, pan-ethnic carrier screening protocol for Spinal Muscular Atrophy. By utilizing targeted educational materials, regular in-person communication by CAHF staff, and an organized grassroots effort involving families from across the country, CAHF has educated policymakers in the federal government and professional societies about SMA, carrier testing technology, and the importance of developing national guidelines and recommendations for health care providers and patients.

In its advocacy efforts, CAHF has worked closely with many elected officials and scientific leaders in the public and private sectors. This includes United States Senators, Members of the U.S. House of Representatives, and senior Congressional staff; senior officials in federal agencies such as the National Human Genome Research Institute (NHGRI), the National Institute of Child Health and Human Development (NICHD), and the Centers for Disease Control and Prevention (CDC); and leadership for professional societies including the American College of Medical Genetics (ACMG), the American College of Obstetrics and Gynecology (ACOG), and the National Society of Genetic Counselors (NSGC).

U.S. Congress
CAHF has collaborated regularly with Members of Congress representing several states, including California, New York, Pennsylvania, Massachusetts, Illinois, and Florida. Through these contacts, for the past several years CAHF has successfully secured language in both the House and the Senate Reports accompanying the annual Labor, Health & Human Services, and Education Appropriations bill urging the federal government to commit greater resources and attention towards SMA carrier screening. This language has encouraged NHGRI to work with government partners such as NICHD and CDC, advocacy partners such as CAHF, and professional societies such as ACMG, ACOG, and NSGC in developing guidelines and recommendations for professional communities and the general public to implement a pan-ethnic carrier screening program for SMA.

Federal Government
As a direct result of CAHF’s efforts with Congress, the first federally-sponsored formal review of carrier screening policy in eleven years took place in February 2008 under the auspices of the National Institutes of Health (NIH). The conference, cosponsored by NHGRI and NICHD, brought together top-level thinkers from varied disciplines representing the most significant public and private entities examining carrier screening technology and policy, including representatives of ACMG and ACOG. These leading investigators and clinicians discussed the opportunities and obstacles to the implementation of pan-ethnic carrier screening for disorders such as SMA and related public policy implications.

CAHF Executive Director Deborah Heine presented a plenary talk at the conference on current challenges facing the implementation of pan-ethnic carrier screening of SMA. Ms. Heine was paired for this talk with Dr. Thomas W. Prior of the Ohio State University Medical Center; the nation’s foremost expert on SMA carrier screening and a member of the CAHF Scientific and Medical Advisory Board.

CAHF continues to work closely with NHGRI and NICHD on moving towards the development of a protocol for pan-ethnic SMA carrier screening. Additionally, CAHF has begun to work with the CDC on an educational campaign to ensure that health care providers and patients are familiar with SMA and aware of SMA carrier testing options.

Professional Societies
CAHF recognizes that any SMA carrier screening protocol will require a public – private partnership. It is imperative that the professional societies representing the providers most likely to guide patients through the carrier testing process are aware of SMA and SMA carrier screening protocols.

CAHF has participated in several high profile educational forums sponsored by medical associations and societies seeking to learn more about SMA. In November 2006, CAHF participated in a panel at a national event sponsored by the American College of Medical Genetics (ACMG) at Jacobi Medical Center in New York City to speak about the importance of screening for pan-ethnic disorders. During the event, experts in genetics from across the country discussed the merits of carrier screening and the importance of developing a national screening panel. CAHF continues to work closely with ACMG leadership on the development of professional guidelines for SMA carrier screening.

CAHF was also featured presenter at the October 2007 Annual Meeting of the National Society of Genetic Counselors (NSGC). Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling who provide information and support to families who are at risk for various inherited disorders. The purpose of CAHF’s event was to educate genetic counselors about SMA and the importance of carrier screening. CAHF distributed its educational materials at the conference.

Future and Ongoing Advocacy Initiatives
Going forwards, CAHF continues to push for improving the technology, professional education, and public awareness related to SMA carrier screening. CAHF is simultaneously working to educate policy makers, professional communities, and the public about SMA and the need for population-based carrier screening.