The tragedy is that most patients with inborn errors of metabolism live and die without being diagnosed, and for many there exists effective treatment that could dramatically improve the quality of their lives.
Salem, MA (PRWEB) October 19, 2015
The Genetic Metabolic Center for Education (GMCE) officially announced a global program that offers physicians and clinics treating patients with suspected or known inborn errors of metabolism, the ability to consult with doctors board-certified in biochemical genetics when diagnosing and treating these conditions.
Metabolic disorders are genetic defects that result in a chemical imbalance in the blood and/or body cells causing multi-system disease, often progressive, and sometimes life-threatening. Newborn screening alone identifies over 1200 infants per year in the US, according to the Center for Disease Control, and the overall prevalence is estimated at greater than 1/1,000 worldwide.
“This is a field of medicine which is sorely underserved,” says Dr. Mark Korson, GMCE Medical Director and a biochemical geneticist specializing in metabolic diseases for the past 30 years. “The tragedy is that most patients with inborn errors of metabolism live and die without being diagnosed, and for many there exists effective treatment that could dramatically improve the quality of their lives.”
GMCE will provide clinicians access to specialized medical and nutritional support by experienced metabolic geneticists and dietitians available by scheduled appointment and/or on-call for immediate medical assistance. Using HIPPA-compliant secure technology to protect patient confidentiality, medical providers can receive guidance on the assessment of patients with inborn errors, a metabolically-oriented discussion of the case, and a prioritized plan for investigation and management. Services are tailored to fit the needs of individual providers and their level of experience with metabolic conditions.
GMCE is also developing a comprehensive array of educational resources for subspecialists most likely to encounter patients with symptoms of a metabolic disease in order to promote patient identification. These include live and webcasted conferences, as well as online training modules and a library of patient presentations used throughout GMCE’s educational programming that utilize a variety of technology-based distance learning platforms to ensure global access.
A growing commitment by developing countries to screen newborns is now helping to identify infants affected with a range of debilitating but treatable disorders. However, this has unmasked the inadequate number of properly-trained physicians available in these countries to manage this new and growing population of patients, a challenge that can impact the success of a newborn screening program. Using a combination of telehealth services and targeted educational programming, GMCE is committed to building a developing world class of metabolic medicine that takes into account the nature of regional medical systems and cultural sensitivities.
Given the limited number of metabolic clinicians with formal training, the choice Dr. Korson faced was “helping the few, or, fundamentally changing the way that knowledge was being disseminated so that we could increase patient access to a diagnosis and treatment.” Partnering with the Private Investor and Advisor Group (PIAG) provided the technical and financial support needed to create the technology platforms needed to make this concept a reality.
For more information about the Genetic Metabolic Center for Education and its services visit its website at: http://www.geneticmetabolic.com.