News from Medical News Today Feb. 24, 2007

Leaders Meet To Discuss Emergency Preparedness For Newborn Screening And Genetic Services
Newborn Screening (NBS) saves lives, but what happens in the case of a natural or manmade disaster? National experts convened last week to review components of the NBS process and actions needed to maintain vital NBS and genetic services during and after a disaster such as a hurricane or terrorist attack.

"We don't always think about the most medically-fragile victims of disasters--newborns and older patients with metabolic disorders," said Michael S. Watson, PhD, ACMG executive director and moderator of the Emergency Preparedness for Newborn Screening and Genetic Services National Workgroup Meeting. "This group is developing the plans and infrastructure to make sure that babies receive the necessary newborn screening tests and follow up and that those already on treatments are able to continue life-saving therapeutics in the case of catastrophes." It is estimated that disorders detectable through NBS affect approximately 1 in 500 babies born annually in the U.S. and nearly 10,000 individuals identified by these programs will require life-long chronic disease management.

The Workgroup meeting was attended by representatives of the medical genetics and public health communities, Federal and State government, industry, and consumer advocacy. The workshop focused on delineating the needs of this unique patient population and addressed:

-- Lessons learned from 9/11 and Hurricane Katrina;

-- Existing Regional Disaster Response Plans and other models;

-- Emergency Communication Plans;

-- Role of lab and medical product manufacturers during a disaster;

-- Roles and needs of patient support and advocacy organizations;

-- Patient needs in rural and remote areas.

"Despite strides in national emergency preparedness to address relatively common health issues, much remains to be done in ensuring that critical genetics services, many of which may be both time-sensitive and life-saving, continue uninterrupted in the case of a catastrophe," said Dr. Jess Thoene, a clinical geneticist at the University of Michigan and co-chair of the National Emergency Preparedness Workgroup. "Any emergency plan that captures the needs of these fragile patients, most of whom have rare diseases and depend on products that are not commonly stocked at the local pharmacy, will have solved the needs of patients with common chronic illnesses as well."

"The aim of the National Coordinating Center for the Genetics and Newborn Screening Regional Service Collaborative Groups (funded as a cooperative agreement with the Health Resources and Services Administration) is to develop disaster response tools that can be adapted locally, regionally and nationally to ensure that infants at any step in the NBS system, ranging from the newborn heel-stick screen through laboratory testing, diagnosis and long-term management, are able to complete screening in a timely way and maintain their access to critical treatments and specialist care providers," said Watson.

In coming months, Workgroup members will develop materials to educate patients about necessary steps to be prepared to continue their care if involved in an emergency, as well as communication capabilities to reconnect patients with specialists and to ensure access to medical foods and therapeutics. These will be available at http://www.acmg.net  and http://www.nccrcg.org .

About the American College of Medical Genetics

Founded in 1991, the American College of Medical Genetics advances the practice of medical genetics and provides education, resources and a voice for 1400 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.

About the National Coordinating Center

In 2004, Health Resources and Services Administration (HRSA), awarded cooperative agreements to establish seven Genetic Service and Newborn Screening Regional Collaborative Groups (RCs) and a National Coordinating Center (NCC) as part of on-going efforts to improve the health of children and their families by promoting translation of genetic medicine into public health and healthcare services. The NCC is formed as a partnership with HRSA through a cooperative agreement with the American College of Medical Genetics (ACMG).

American College of Medical Genetics
http://www.acmg.net


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