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Genetic Advances and the Rarest of Rare Diseases
Newswise — Collaborative approaches are needed to ensure that diagnostic testing for families affected by the rarest genetic diseases meets the same quality standards as for more common clinical laboratory tests, according to the May special issue of Genetics in Medicine, official 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, pharmacy and the pharmaceutical industry.
The papers in the special theme issue outline recent progress and remaining challenges in genetic testing for ultra-rare genetic diseases—those affecting less than 2,000 Americans. With advances in mapping and sequencing of the human genome and the development of molecular genetic tests, researchers have been able to identify the genetic causes of many new rare and ultra-rare diseases.
However, only recently has substantial progress been made in "translating" these discoveries from research departments into clinically available diagnostic tests. A major obstacle is the economic one—commercial laboratories have little incentive to invest in developing the ability to perform tests that they will perform only rarely, if ever.
Researchers often feel morally obligated to provide families affected by rare diseases with the results of any genetic tests performed in the course of research studies. They may be unaware that providing these results is technically illegal—under federal legislation, only labs meeting the quality standards of the Clinical Laboratory Improvement Amendments (CLIA) are permitted to communicate test results to patients. Researchers and their institutions may also face legal liabilities—for example, "wrongful birth" lawsuits if inaccurate results on fetal tests lead to the birth of a child affected by a rare disease.
The special issue highlights some promising approaches to making the jump from research settings to the clinical diagnostic lab. In one case, two National Institutes of Health (NIH) scientists, frustrated by the rules on providing test results to research subjects, set up a small private laboratory with CLIA certification. In another case, partnerships were established between research labs and CLIA-certified clinical labs within a university.
Another suggested approach is centralized testing—a small group of laboratories dedicated to rare disease testing. Such laboratories are growing in number and drawing external support from funding agencies. New ACMG guidelines propose quality assurance standards for these specialized rare-disease labs—less stringent than for more widely performed tests, but without sacrificing quality.
Other topics in the special issue include the role of laboratory genetic counselors in interpreting results and dealing with the inherent limitations of testing for ultra-rare diseases—for example, a higher rate of inconclusive results. Another paper recommends "best practice models" for licensing the right to perform diagnostic tests for disease-causing genes, as an alternative to patenting of human genes.
Along with the NIH and other organizations, the ACMG has played a central role in efforts to promote high-quality diagnostic test services for patients and families affected by rare diseases. Most recently, the ACMG received an NIH grant to study the development of an organized and coordinated clinical research system for the study of rare genetic diseases. The ACMG proposal includes recommendations for partnerships among various stakeholders, resources for performing translational research and integrated research networks, training for health care professionals and patient groups, systems for dealing with ethical issues and informing research subjects of test results, and incentives for making discoveries available for commercial uses.
"We are delighted to devote this month's issue to the subject of rare diseases," said Dr. James P. Evans, Editor-in-Chief of Genetics in Medicine. "While such diseases, when taken individually, do not affect great numbers of people, their aggregate impact on the health of our citizens is not trivial. And of course, it must always be remembered that no matter how rare a disease is, the suffering of the individual who has it can be profound. We owe those with rare diseases the same degree of concern that people with more common diseases receive."
About the American College of Medical Genetics
Founded in 1991, the ACMG (http://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, now published monthly, is the official journal of the ACMG.
About Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (www.LWW.com) 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, pharmacy and the pharmaceutical industry.
Wolters Kluwer Health is a division of Wolters Kluwer, a leading global information services and publishing company with annual revenues (2007) of €3.4 billion ($4.8 billion), maintains operations in over 33 countries across Europe, North America, and Asia Pacific and employs approximately 19,500 people worldwide. Visit www.wolterskluwer.com for information about our market positions, customers, brands, and organization.
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