by Mark Korson, MD

One of the biggest concerns of patients with metabolic disorders is the lack of physicians who are knowledgeable about their diagnosis. It is all too common that these patients encounter doctors who are unfamiliar with their diseases. While these physicians participate regularly in the management of metabolic patients, their “metabolic competence” is limited by the constraints of their educational experience.

Metabolic (or biochemical) geneticists are a rare breed of physician. According to a 2006 study (Cooksey et al. 2006 here), fewer than 2% of physicians in the US are board-certified geneticists, and clinical biochemical geneticists only comprise approximately 12% of the clinical genetics workforce (ACMG 2013 here). Many of these metabolic specialists do not actively care for patients, but instead work in laboratory or research settings. At an estimated 0.1% incidence rate for metabolic disease, this results in between 1,000 and 3,000 metabolic patients per active board-certified biochemical geneticist in the U.S. These numbers are staggering. It is no wonder that only about half of geneticists who regularly see metabolic patients have had formal training in metabolic medicine (Cooksey et al. 2006 here).

As a result, patients and parents often find themselves needing to educate an unfamiliar doctor in a new encounter. It is neither unusual nor a bad thing to inform a doctor about a child’s illness, but when patients or parents become the primary source of information on disease assessment and management, that can be problematic and even dangerous. This burden of responsibility upon a patient or family member is too heavy; in an emergency room setting, it’s hard enough just to be the patient or the loved one.

The metabolic patient population is growing as a result of enhanced diagnostic technology, especially newborn screening. Genetic metabolic diseases include phenylketonuria (PKU), fatty acid oxidation defects, organic acidemias, urea cycle disorders, mitochondrial diseases, lysosomal storage diseases, among others. To date there has been no comprehensive plan for increasing the number of metabolic clinicians or for educating other medical specialists about metabolic diseases, but there is hope.

The Genetic Metabolic Center for Education (GMCE) was launched earlier this year with the mission of ensuring that children and adults with metabolic disorders are identified, diagnosed and treated. GMCE assists clinicians manage their metabolic patients through telehealth technology, and provides specialists and trainees a variety of learning experiences that utilize a practical, symptom-based, specialty-relevant approach to help them diagnose metabolic disease. By creating an online platform for our initiatives, the impact can be global.

In my 30 years as a metabolic geneticist, my patients and their families have generously shared their perspectives with me about their care, the ups and downs of the medical system, and the challenges they face. The need is very clear. We at GMCE are committed to building a comprehensive, education-based program to improve the quality of health care for children and adults with inborn errors of metabolism.

 

About the Author

Dr. Mark Korson is Medical Director of the Genetic Metabolic Center for Education and is responsible for overseeing both the company’s consultative services and educational content together with a team of biochemical geneticists.

Dr. Korson previously served as Metabolism Service Director (2000-2014) at Tufts Medical Center, where he launched the Metabolic Outreach Service to aid regional teaching hospitals lacking metabolic services. This program educated and advised non-metabolic clinicians, enabling greater participation in the care of metabolic patients.

Since 2007, he has co-directed the North American Metabolic Academy, the premier training conference for genetic trainees on this continent, sponsored by the Society for Inherited Metabolic Disorders. He has given hundreds of lectures in the US and abroad, including Cyprus, Great Britain, Israel, Jordan, Malaysia, and most recently, the Republic of Georgia.

Dr. Korson graduated from University of Toronto Medical School and completed pediatric residency at The Hospital for Sick Children. After a fellowship in genetics and metabolism in 1990 he directed the Metabolism Clinic until 2000 at Boston Children’s Hospital.

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