Lok Sabha Question No. 111 (STARRED), answered on 2018-02-09
Subject: Genetic Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: SUNIL KUMAR SINGH, VINOD KUMAR BOIANAPALLI

## GOVERNMENT OF INDIA MINISTRY OF HEALTH AND FAMILY WELFARE DEPARTMENT OF HEALTH AND FAMILY WELFARE

## LOK SABHA STARRED QUESTION NO. 111 TO BE ANSWERED ON THE 9 TH FEBRUARY , 2018 GENETIC DISEASES

## *111. SHRI SUNIL KUMAR SINGH: SHRI B. VINOD KUMAR:

Will the Minister of HEALTH AND FAMILY WELFARE be pleased to state:

- (a)  whether  a  large  number  of  people  in  India  are  suffering  from  rare  g diseases including Sickle Cell Anaemia and Thalassemia especially in tribal and if so, the details thereof along with the number of people suffering fr genetic diseases in the country;
- (b) whether the diagnosis rate of genetic diseases is extremely low, if so, t thereof and the reasons therefor;
- (c) whether the G overnment has identified the lacunae in public support syst with regard to rare genetic disorders and if so, the details thereof;
- (d)  whether the  Government  proposes  to  bring  out  vaccine  for  any  of  suc diseases, if so, the details including the estimated cost thereof along wit by which it will be made available to the patients; and
- (e)  the  necessary  steps  taken  by  the  Government  fo r  early  detection,  treatment, promotion of research and creation of awareness about such diseases?

## ANSWER THE MINISTER OF HEALTH AND FAMILY WELFARE ( SHRI JAGAT PRAKASH NADDA )

- (a)to ( e) : A Statement is laid on the Table of the House.

## STATEMENT REFERRED TO IN REPLY TO LOK SABHA STARRED QUESTION NO. 111* FOR 9 TH FEBRUARY , 2018

(a)    It is estimated that globally around 6000 - 8000 rare diseases exist. However, 80% of all rare disease patients are affected by approximately 350 rare dise far about 450 rare diseases have been recorded in India from tertiary care h Lack of epidemiological data on incidence and prevalence of rare diseases im understanding of the extent of the burden of rare diseases in India. Recogni need  to  gather  epidemiological  data,  Indian  Council  of  Medical  Research recently  laun ched  'Indian Rare  Disease  Registry' for certain rare diseases, including Thalassemia and Sickle Cell Anemia.

An estimated number of 1,20,000 to 1,50,000 patients are affected by Sickle Disease  in  India  with  20 - 35%  carrier  rate  in  tribals  and  other  ba ckward communities.  The  estimated  number  of  beta  Thalassemia  cases  is  1,00,000 1,20,000 with a carrier rate of 3 - 4% in overall population.

(b)  Diagnosis facilities are available for screening, control and manage Hemoglobinopathies  (Thalassemia, Sickle  Cell  disease)  disorders.  However,  no study  has  been  conducted  on  the  diagnosis  rate  of  other  rare  diseases  in International data indicates that diagnosis of a rare disease may take upto years.  According to a recent report, it takes patients in the United States (USA) an average of 7.6 years and patients in United Kingdom (UK) an average of 5.6 y toreceive an accurate diagnosis.

(c) Rare diseases poses a challenge to public health systems globally and so in developing count ries like India.    Lack of epidemiological data, difficu conducting pan India epidemiological studies for each rare disease, challen diagnosis and management of rare diseases, challenges in research development  of  drugs  and  diagnosis  modal ities,  unavailability  of  treatment,  the exorbitant cost of drugs for treating rare diseases etc. are a big challenge.

(d) Majority of rare diseases are inherited diseases and not treatable by v Also  no  vaccines  are  currently  available  for  treatme nt  of  rare  diseases.    Some diseases like Sickle Cell anemia may be benefitted by pneumococcal vaccine addition to the vaccines routinely recommended. These vaccines are provided of cost by the States.

(e) Comprehensive Guidelines for prevention and management Hemoglobinopathies have been developed and shared with states. ICMR, through of

its flagship projects like Jai Vigyan has covered all aspects of overall d training, awareness and management of Hemoglobinopathies in India and through the  tribal  health  forum  projects,  the  same  has  been  extended  to  specific groups  in  Maharashtra,  Gujarat  and  Madhya  Pradesh.    ICMR  and  other Government funding agencies also promote active research in these areas through various intramural and extramural research programmes.

The Ministry of Health and Family Welfare has also formulated a National Policy for treatment of Rare Diseases in India to progressively build India's capacity to respond comprehensive ly to rare diseases.  On the whole, the Policy seeks to s a  balance  between  the  interest  of  patients  of  rare  diseases  and  health sustainability. ICMR has established 2 Centres of excellence of primary immune -deficiencies (PIDs) one at PGIMER, Chandigarh and one at ICMR - NIM, Mumbai for improving diagnostic facilities for PIDs and understanding their prevale pattern in India. Under NHM, States/UTs are also being supported for   preve and control and management of Thalassemia & sickle cell.

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