Lok Sabha Question No. 425 (STARRED), answered on 2023-03-31
Subject: Burden of Genetic Disorders
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Poonamben Hematbhai Maadam

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

## LOK SABHA STARRED QUESTION NO. 425 TO BE ANSWERED ON THE 31 ST  MARCH, 2023

## BURDEN OF GENETIC DISORDERS

## *425. SHRIMATI POONAMBEN MAADAM:

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

- (a) whether the Government has analysed the burden of genetic disorders on health care system in the country and if so, the details thereof;
- (b) the steps taken/proposed to be taken by the Government to address such 'inherited disorders' and if so, the details thereof;
- (c) whether the Government has trained medical personnel in Government facilities for prenatal testing for genetic disorders; and
- (d) if so, the number of Government hospitals equipped with such facility for mothers carrying high-risk genetic disorders?

## THE MINISTER OF HEALTH AND FAMILY WELFARE

## ANSWER (DR MANSUKH MANDAVIYA)

(a) to (d) A Statement is laid on the Table of the House.

## STATEMENT REFERRED TO IN REPLY TO LOK SABHA STARRED QUESTION NO. 425 FOR 31 ST     MARCH, 2023

(a) to (d) The Government has launched National Policy for Rare Diseases (NPRD), 2021 in March, 2021. The policy aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness  generation,  screening  and  counselling  programmes  to  prevent  births  of children  with  rare  diseases,  and  within  the  constraints  on  resources  and  competing health  care  priorities,  enable  access  to  affordable  health  care  to  Patients  of  rare diseases.  Financial  assistance  upto  Rs.  50  lakhs  is  provided  to  the  patients  suffering from  any  category  of  rare  diseases  and  getting  treatment  in  any  of  the  Centre  of Excellence  (CoEs)  identified  under  NPRD,  2021.  As  per  NPRD,  2021,  eleven  (11) CoEs have been identified for diagnosis, prevention and treatment of rare diseases.

Indian Council of Medical Research (ICMR) National Registry of Rare Diseases and Other Inherited Disorders (NRROID) initiated in November 2019 documents the hospital based data from patients seeking care for rare diseases. The registry at present contains the data of 9163 patients.

The  Department  of  Biotechnology  (DBT)  started  the  Unique  Methods  of Management  of  Inherited  Disorders  (UMMID)  Initiative  in  2019,  which  has  three components.  Under  the  first  component,  5  NIDAN  (National  Inherited  Diseases Administration) Kendras  (genetic testing laboratories) have  been  established at Government hospitals. Under the second component (outreach), prenatal and newborn screening is carried out at District Hospitals at 9 Aspirational Districts, coordinated by 7 premier research institutions of India.  Under the third component, 6 training centers have  been  established  for  training  of  in-service  Government  doctors  in  genetic diagnostics  and  counseling.  Also,  PRaGeD  mission  is  the  first  ever  "Mission  on Paediatric Rare Genetic Disorders (PraGeD), a countrywide screening programme in association with 20 other institutions to decode the unknown genetic mutations causing such diseases. DBT's autonomous institutions namely, National Institute of Biomedical  Genomics  (NIBMG),  Kalyani,  West  Bengal  and  Centre  for  DNA Fingerprinting & Diagnostics (CDFD), Hyderabad, Telangana provide genetic testing services for Genetic Disorders.

Sickle  cell  disease  (SCD)  is  a  single  gene  disorder  causing  a  debilitating systemic  syndrome  characterized  by  chronic  anaemia,  acute  painful  episodes,  organ infarction and chronic organ damage and by a significant reduction in life expectancy. Under National Health Mission (NHM), Government of India supports the States for prevention and management of sickle cell disease as per their annual PIP proposals. The  Ministry  has  also  released  technical  operational  guidelines  for  prevention  and control of hemoglobinopathies in 2016 including sickle cell anaemia.

In the Union budget of FY 2023-24, it has been announced to launch a mission to  eliminate  sickle  cell  anaemia  by  2047.  The  mission  entails  focus  on  awareness creation, universal screening of approximately seven crore people in the 0-40 years age group in affected tribal areas and counselling through collaborative efforts of central ministries and state governments.

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