Evaluation of Evidence Must Account for Scarce Data on Rare Diseases
Philadelphia, PA. (March 23, 2010) –The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the April issue of Genetics in Medicine (www.geneticsinmedicine.org), the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.
The articles seek to communicate a review process that includes “careful assessment of the evidence, elimination of conflicts of interest, and transparency with significant public input throughout,” according to an introductory comment by Alan R. Fleischman, M.D., and Jennifer L. Howse, Ph.D., of the March of Dimes Foundation.
Effort Emphasizes ‘Unique Role of Unique Evidence’
The Secretary’s Advisory Committee on Heritable Disorders in Newborns in Children was chartered in 2003 to make recommendations to the Secretary of Health and Human Services regarding which genetic diseases should be included in newborn screening programs. A 2006 ACMG report recommended mandatory newborn screening for a core panel of 29 conditions, most of which are currently included in the newborn screening program of every state.
“The ACMG report was enthusiastically endorsed by the Secretary’s Advisory Committee as well as the American Academy of Pediatrics, the March of Dimes and other organizations,” Dr. Fleischman and Howse write. However, some commentators have questioned the methods used in making these recommendations, suggesting that the process “does not conform to contemporary standards of evidence-based decision making.”
To address these concerns, members of the Secretary’s Advisory Committee outline the process followed in making its recommendations. A key issue is the relative scarcity of data concerning most genetic diseases in infants, many of which are very rare. The threshold for evidence is “inherently different” than that for screening of more common conditions, such as cancer or cardiovascular disease.
The multi-step process includes assessment of the availability and quality of research evidence, the accuracy of the available screening tests, and the potential benefits of early detection and treatment. These are similar to the issues involved in screening for more common diseases. However, the process includes “more flexible criteria…to accommodate the data limitations stemming from the rarity of many of these conditions,” according to the Secretary’s Advisory Committee report.
In addition to considering published scientific evidence, the Committee seeks involvement of parent/advocacy groups, as well as experts who may have specialized knowledge in this rapidly-evolving field. In outlining the process and including the input of advocates and experts, the Committee has sought to develop “consistent and transparent strategies for evidence review.”
The special issue also presents updates on the prospects for new tests for specific genetic diseases, some of which may soon be evaluated by the Secretary’s Advisory Committee:
- A new and improved diagnostic test for fragile X syndrome-the most common inherited cause of mental impairment-which may soon make it practical to perform newborn screening and carrier testing for fragile X mutations.
- Progress in diagnostic testing for spinal muscular atrophy, a neurodegenerative disease that is the most common genetic cause of death in infants. Last year, the ACMG formally recommended population carrier screening for this condition.
- An update on testing for the 22q11 deletion syndrome: A highly variable condition that causes few problems in some children, learning disabilities or autism in others, and heart defects and seizures in others. Although no test is available yet, decisions about this condition are likely to set a precedent for the addition of other chromosomal diseases.
- Connexin-26-associated deafness, a common form of inherited hearing loss that worsens over time in many children.
Note to editors: Interviews with the lead authors available upon request by contacting Kathy Beal, Public Relations Director for the ACMG: phone 301-238-4582 or e-mail kbeal@acmg.net. A separate press release has been issued providing more detailed coverage of the new test for fragile X syndrome.
About Genetics in Medicine
Genetics in Medicine (geneticsinmedicine.org) is the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
About the American College of Medical Genetics
Founded in 1991, the ACMG (www.acmg.net) provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease. Members include biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics. Genetics in Medicine, published monthly, is the official journal of the ACMG.
Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (LWW) is a leading international publisher for healthcare professionals and students with nearly 300 periodicals and 1,500 books in more than 100 disciplines publishing under the LWW brand, as well as content-based sites and online corporate and customer services.
LWW is part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals and institutions in medicine, nursing, allied health and pharmacy. Major brands include traditional publishers of medical and drug reference tools and textbooks, such as Lippincott Williams & Wilkins and Facts & Comparisons®; and electronic information providers, such as Ovid®, UpToDate®, Medi-Span® and ProVation® Medical.
Wolters Kluwer Health is part of Wolters Kluwer, a leading global information services and publishing company. The company provides products and services for professionals in the health, tax, accounting, corporate, financial services, legal, and regulatory sectors. Wolters Kluwer had 2009 annual revenues of €3.4 billion ($4.8 billion), employs approximately 18,200 people worldwide, and maintains operations in over 40 countries across Europe, North America, Asia Pacific, and Latin America. Wolters Kluwer is headquartered in Alphen aan den Rijn, the Netherlands. Its shares are quoted on Euronext Amsterdam (WKL) and are included in the AEX and Euronext 100 indices. Visit www.wolterskluwer.com for information about our market positions, customers, brands, and organization.
Contacts:
Robert Dekker
Director of Communications
Wolters Kluwer Health
215-521-8928
Robert.Dekker@wolterskluwer.com
Carole Bernstein
Marketing Manager
Lippincott Williams and Wilkins
215-521-8300
Carole.Bernstein@wolterskluwer.com