Lok Sabha Question No. 70 (STARRED), answered on 2021-07-23
Subject: Research on Rare Genetic Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Arvind Kumar Sharma, Bharatiben Dhirubhai Shyal

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

## LOK SABHA STARRED QUESTION NO.70 TO BE ANSWERED ON THE 23 RD JULY , 2021

## RESEARCH ON RARE GENETIC DISEASES

## *70. DR. ARVIND KUMAR SHARMA: DR. BHARATIBEN DHIRUBHAI SHIYAL:

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

- (a) whether  the  Government  proposes  to  ramp  up  dedicated  research  & development on rare genetic diseases like spinal muscular atrophy and others along  with  the  deployment  of  available  resources  for  treatments  to maximum health gains for patients suffering from such diseases;
- (b) if so, the details thereof ;
- (c) if  so  the  details  of  the  steps  taken  by  t he  Government  to  improve Telehealth  services  and  other  Digital  health  services  for  citizens  acr national in order to achieve 'Health for all';
- (d) whether the Government is t aking measures to ensure immuniza tion of those wh o have be en left out during the COVID pandemic under Indradhanush 3.0; and
- (e) If so, the details thereof?

## ANSWER THE MINISTER OF HEALTH AND FAMILY WELFARE ( SHRI MANSUKH MANDAVIYA)

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

## STATEMENT REFERRED TO IN REPLY TO LOK SABHA STARRED QUESTION NO. 70 FOR 2 3 RD JULY, 2021

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(a) and (b) To ramp up dedicated research and development on rare genetic diseases,  Indian  Council  of  Medical  Research  (ICMR),  an  autonomous  body under  the  administrative  control  of  the  Department  of  Health  Research, created a Task Force on Rare Diseases. Under th is Task Force currently, project proposals  are  being  funded  on  diagnostic  research,  interventions  and understanding  of  rare  disease  mechanisms.  These  projects  are  focusing diseases  like  Primary  Immunodeficiency  disorders,  Trigeminal  Neuralgi Amyloidosis, Neuromyelitis Optica, Alport Syndrome, etc.

Recently ICMR has also set up a Registry on Rare Diseases. This Registr focusing  on  storage  disorders,  Small  Molecule  Inborn  Errors  of  Metaboli (IEMs),  Skeletal  dysplasias,  Primary  Immune  deficiencie s,  Neuromuscular Disorders and Hematological Disorders.

Council  of  Scientific  and  Industrial  Research  (CSIR)  through  its  const laboratory, CSIR - Institute of Genomics and Integrative Biology (CSIR - IGIB) is working  in  the  area  of  molecular  genetics  of neurodegenerative  disorders, biology  of  neuromuscular  diseases,  and  is  involved  in  developing  gen screening methodologies for Duchhene Muscular Dystrophy and  Spinal Muscular Dystrophy.

(c) Government recognizes the immense potential of digital technologies in improving health care delivery. In this regard, various initiatives ha taken for implementing digital health services in an integrated manner at the central and state level.

Telehealth Services: eSanjeevani Application -National Telemedicine Service -eSanjeevani has been rolled out on 13 th April, 2020 in the country.

- eSanjeevani  comprises  of  two  variants  of  eSanjeevani  namely - doctor  to doctor (eSanjeevani AB - HWC) telemedicine platform and patient to doctor telemedicine platfor m (eSanjeevaniOPD) which provides outpatient services to  the  citizens  in  the  confines  of  their  homes. Currently  the  eSanjeevani application  is  operational  in  35  States  and  has  rendered  around  78 consultations.
- To ensure safe and secure implementation of telemedicine services across the  country,  the  National  Medical  Commission  has  issued  Telemedicin Practice Guidelines in March 2020 to enable registered medical practiti to  provide  healthcare  using  telemedicine.  ICMR  is  also  working  in domain o f Tele health to achieve 'Health for all'.
- eSanjeevani  application  has  also  been  integrated  with  country's  3.74  lakh Common  Service  Centres  (CSCs)  to  enable  telemedicine  services  to  th remotest area of the country
- Financial  support  has  been  provided  to  St ates/UTs  under  National  Health Mission for implementation of Telemedicine.

National Health Policy, 2017 advocates extensive deployment of digital t for  improving  the  efficiency  and  outcome  of  healthcare  system.  The  pol aims at an integrated health i nformation system which shall serve the needs of all stake - holders and shall facilitate improvement in efficiency, transpare and citizen experience.

For  establishing  a  comprehensive,  nationwide  integration  of  Digital  He Ecosystem, MoHFW has releas ed National Health Digital Blueprint (NDHB) -an architectural framework for digital interventions in October 2

Implementation of National Digital Health Mission (NDHM) was announced on 15 th August 2020 with vision to create national digital health ecosystem that supports  universal  health  coverage  in  an  efficient,  accessible,  incl affordable, timely and safe manner.

Currently, NDHM is being implemented in 6 Union Territories (Andaman & Nicobar  Islands,  Chandi garh,  Dadra  &  Nagar  Haveli  and  Daman  &  Diu, Lakshadweep, Ladakh and Puducherry) in Phase -I.

A  large  number  of  applications  such  as  Maternal  &  Child  Health  Trackin application,  NCD  application,  IHIP,  Nikshay,  Covid - 19  portal  etc.  provides required data d riven insights in implementation of various health programs.

To  augment  the  Digital  Health  infrastructure  with  a  view  to  aid  data  d insights  and  ensuring  availability  of  healthcare  delivery  in  rural  and areas, additional support is being provided under Emergency Covid Respon

Package  II  to  augment  teleh ealth  services  and  implementation  of  Hospital Management Information System (HMIS).

(d) and (e) Two rounds of Intensified Mission Indradhanush (IMI) 3.0 were conducted from February 2021 to March 2021, to ensure immunization of thos who have been lef t out during the COVID pandemic. A total of 250 district were  identified  across  29  states/UTs,  based  on  factors  like  immuniza coverage and burden of vaccine preventable diseases, where more than 9.5 children and 2.24 lakh pregnant women were vacc inated under IMI 3.0.

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