The American College of Medical Genetics Foundation
The American College of Medical Genetics Foundation (ACMGF), a not-for-profit organization, exists to fund the initiatives of the College as well as a myriad of educational activities related to medical genetic services.
For example, recently the College successfully defined a significantly expanded public health based program of newborn screening in the United States. The expansion of the program brought access to 4.1 million infants for newborn screening each year which identify 29 genetic conditions with significant morbidity and mortality if not promptly treated. Prior to the release of the study, less than 5% of all infants born in this country were tested at birth for most of these life-threatening conditions. Today, as a result of the ACMG study, over 70% of babies born in this country benefit from newborn screening and roughly 10,000 are living productive lives while managing these chronic diseases.
The initiatives of the ACMG/ACMGF result in saving lives and improving human health in other ways as listed, in part, below.
Accomplishments in Improving Public Health
Developing disaster preparedness plans for the nation to ensure that genetic disease patients, including those from newborn screening, are able to access their medical information, treatments and related information during emergencies.
· Representing the leading educators of the next generation of physicians and physicians in practice with regard to the integration and delivery of medical genetics health care.
· Improving access to and the quality of genetic services by being actively involved in the pursuit of genetics legislation.
· Driving the development of telegenetics delivery systems to extend access to genetic services.
· Coordinating activities with the U.S. Department of Health and Human Services to develop the newborn screening, genetics education and clinical decision support components of electronic health systems.
· Administering the development of "ACT Sheets" for primary care providers. Designed as point of care education tools so that your doctor can better understand your genetic propensity for disease and offer more effective treatment.
Unique Qualifications:
· ACMG represents the providers of genetic services who have developed the field to its current level since the late 1950’s.
· ACMG operates the federally funded National Coordinating Center for Regional Genetics and Newborn Screening Collaboratives.
· ACMG members have been central to the mapping of the disease associations of the human genome.
· We maintain close oversight relationships with primary care, public health and specialist providers involved in genetics testing and services.
· ACMG leadership and members head and have headed several highly influential governmental advisory committees like the NIH/DOE Task Force on Genetics Testing (Michael S. Watson, PhD, FACMG), and Committees that are advisory to the Secretary of DHHS. Advisory Committee for Heritable Disorders and Genetic Diseases of Newborns and Children (R. Rodney Howell, MD, FACMG), Secretary’s Advisory Committee on Genetic Testing (Edward McCabe, MD, PhD, FACMG, past chair and past ACMG President).
· We act as a "neutral broker" between the FDA, other governmental agencies and businesses to ensure that best practice guidelines obtain throughout.
Case for Support
The human genome, and the knowledge that will be derived from its sequencing, will improve the diagnosis, treatment, and prevention of disease for the benefit of humankind. Vast resources of time, expertise, and funds have been invested not only in researching the science, but also the complex ethical, legal and social implications of this major step forward in our understanding of human health.
The challenge remains, and it is a significant one, to translate this enormous body of information into safe and effective treatments and tests. To translate genes into health.
With capital funding, the ACMGF would be empowered to:
· Continue as a lead organization in the development of genetics components of electronic medical records.
· Bring unique expertise and knowledge of genetic testing to assessments of the evidence base for rare diseases and the more common uses such as pharmacogenetic testing to guiding dosing of warfarin and other life-saving pharmaceuticals to avoid adverse drug events.
· Develop next generation educational tools such as virtual patients/clinics that educate providers and the public about the delivery of disease specific genetic services.
· Develop online genetics educational modules for patients and providers.
· Develop publicly accessible directories of validated genetic tests.
· Work with leading companies developing consumer oriented healthcare tools that would reach millions including Google Health, 23andMe, Microsoft Health, Epic Systems, Cerner.
For more information about how you can support ACMGF programs and services, please contact:
R. Rodney Howell, MD, FACMG, President (rhowell@miami.edu or 301-718-2014)
Michael S. Watson, PhD, FACMG, Executive Director (mwatson@acmg.net or 301-718-2014)
J. David Cotter, Director of Development (dcotter@acmg.net or 301-718-2014)
Katherine Ellis, Administrative Assistant (kellis@acmg.net or 301-718-2014)