Human Genetics Institutes in India

Dr Ravi Hiremagalore reports his experience of establishing a multi-disciplinary clinic and services available for the care of EB patients in Bangalore, India.

Inherited Epidermolysis bullosa (EB) is common in several parts of India. However the exact incidence and prevalence is largely unknown because of underreporting. In this part of the country, consanguineous marriages are very common and hence the recessive forms of EB are more often seen.

In most parts of India, diagnosis of EB has been largely clinical. Immunofluorescence antigen mapping (IFM) facilities have not been available until recently. The high cost of IFM is a limiting factor. Delhi Dermpath laboratory was the first to start IFM studies in the country. The entire panel of monoclonal antibodies is not available even in the best laboratories in the country. This increases the challenges in diagnosing the rare types of EB. Molecular diagnosis is done in some private laboratories, which can be very expensive and hence is not done in all cases.

Management of EB in most parts is being provided at the medical colleges by individual dermatologists, although not as a part of specialised clinics. This scenario could largely be attributed to lack of awareness about the disease, amongst both physicians and patients.

A Bangalore based institute, Centre for Human Genetics (CHG) is a not-for-profit research organisation. A team of researchers and clinicians are working on various human genetic conditions and provide both molecular diagnostic and prenatal diagnostic services. At CHG, multi-disciplinary clinics for EB have been set up to provide comprehensive health care to these patients. Patients are referred to the clinic after having been diagnosed to have EB at 2 tertiary care hospitals in the city viz. Manipal Hospital and Indira Gandhi Institute of Child Health. A team of specialists is constituted based on a needs assessment done by our clinic coordinator. The team includes a general pediatrician, pediatric gastroenterologist, ophthalmologist, pediatric dentist, dietician, plastic surgeon and a nurse. Specialists examine the patients independently and this is followed by a moderated group discussion on the various problems and their management.

Multi-disciplinary clinics are conducted once in four months. About five patients of various types of EB are examined in every clinic. Apart from the clinic, a seminar was organised to highlight the recent advances in diagnosis and management of EB. We have collaborated with a dermatopathologist for IFM studies and have a funded project to do the molecular analysis of these patients.

Future plans

1. To extend the EB related services across the state of Karnataka. We have set up five nodal centres with a pediatrician and dermatologist in each centre, to coordinate the multi-disciplinary clinics.
2. Education programmes for dermatologists and pediatricians to create awareness about EB.