Lok Sabha Question No. 1843 (UNSTARRED), answered on 2024-12-06
Subject: Prevalence of Genetic Disorders
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Shri G Lakshminarayana

## GOVERNMENTOFINDIA MINISTRY OFHEALTH AND FAMILY WELFARE DEPARTMENT OFHEALTH RESEARCH

## LOK SABHA UNSTARRED QUESTION NO. 1843 TO BE ANSWERED ON 06 TH DECEMBER, 2024

## PREVALENCE OFGENETIC DISORDERS

## 1843. SHRI G LAKSHMINARAYANA:

Will the Minister of HEALTHANDFAMILYWELFARE be pleased to state:

- (a) the number of children (below 18 years) and adults suffering from genetic disorders in the country during the last five years, State-wise;
- (b) the types of genetic disorders most prevalent among children, specifically mentioning thalassemia, sickle cell anaemia, down syndrome, and cystic fibrosis, State-wise;
- (c) the number of Nidaan Kendras established under the Unique Methods of Management and Treatment of Inherited Disorders (UMMID) scheme, including their locations and the type of genetic disorders in the country, State/UT-wise;
- (d) the number of genetic screenings conducted and individuals trained in each State, particularly through Nidaan Kendras, State/UT-wise;
- (e) whether the Government plans to establish additional Nidaan Kendras in States with high genetic disorder prevalence, including Andhra Pradesh for new centers or clinical training in the country, State/UTwise; and
- (f) the current status and expected time by which the said project is likely to be completed in Andhra Pradesh?

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILYWELFARE

## (SHRI PRATAPRAO JADHAV)

(a): Indian Council of Medical Research (ICMR) has informed that the National Registry for Rare and Other Inherited Disorders (NRROID) was initiated in November 2019 to document prospectively the data of various patients suffering from rare genetic diseases who visit the hospital OPDs. The age and state-wise data of 13,186 patients suffering from rare genetic diseases is available in the registry. The state-wise distribution of children (below 18 years) and adults suffering from genetic disorders, enrolled in the registry is given at Annexure 'A'.

(b): As on 24.11.2024, a total of 4,75,42,776 individuals have been screened under the National Sickle Cell Anaemia Elimination Mission (NSCAEM). The State-wise details of screenings conducted and diseased Sickle Cell Anaemia individuals identified through screening in the affected States is given at Annexure-B.

The National Registry for Rare and Other Inherited Disorders collects information on Thalassemia patients which are enrolled from 24 centres across the country. The State-wise distribution of Thalassemia patients enrolled in the registry is given at Annexure C.

Additionally, ICMR funded Centre for Advanced Research on Childhood Respiratory Disease collected information on cystic fibrosis patients from 4 institutes across the country. The state-wise distribution of cystic fibrosis patients which were enrolled (through hospitals) in the above-mentioned project is given at Annexure D.

(c): Department of Biotechnology (DBT) has informed that it has undertaken Unique Methods of Management and Treatment of Inherited Disorders (UMMID) scheme initiative to address the burden of genetic disorders in the country through establishment of three components: DBT-UMMID-NIDAN Kendras (Genetic diagnosis centres), outreach to aspirational districts for antenatal & newborn screening, and training centres for capacity building among Government doctors. Initially DBT-UMMID-NIDAN Kendras were set up in five major hospitals, across India as part of the first phase. Currently, in phase two of UMMID Initiative, the DBT-UMMID-NIDAN Kendras Network has been expanded to 26 Centers nationwide across 15 States/UTs, including institutes from varied geographical locations.

The state wise list of DBT-UMMID-NIDAN KENDRA is given at Annexure E.

DBT-UMMID-NIDAN Kendras undertake Prenatal testing for genetic disorders such as Beta thalassemia, sickle cell disease, and other hemoglobinopathies, Down syndrome and other aneuploidies, Congenital malformations such as neural tube defects and other genetic disorders prevalent at a relatively higher rate in the region. Newborn Screening is undertaken for relatively common treatable genetic metabolic disorders including, Congenital hypothyroidism, Congenital adrenal hyperplasia, Galactosemia, Biotinidase deficiency, Glucose-6-phosphate dehydrogenase (G6PD) deficiency and other treatable genetic metabolic disorders prevalent at a relatively higher rate in the region.

- (d): Initially DBT-UMMID-NIDAN Kendras were set up in five major hospitals, across India as part of the first phase. The number of genetic screenings conducted and individuals trained in each state, particularly through Nidan Kendras, State/UT-wise is provided below:

| NIDAN Kendra   | Institute/ State                                                              |   No. of genetic screenings |   No. of Manpower trained |
|----------------|-------------------------------------------------------------------------------|-----------------------------|---------------------------|
| Delhi          | -Army Hospital Research and Referral, Delhi                                   |                        7500 |                         4 |
| Delhi          | -Lady Hardinge Medical College, Delhi                                         |                        7255 |                        11 |
| Rajasthan      | -All India Institute of Medical Sciences (AIIMS), Jodhpur, Rajasthan          |                       27618 |                        22 |
| Telangana      | - Nizam's Institute of Medical Sciences, Hyderabad, Telangana                 |                       28284 |                         7 |
| West Bengal    | -Nil Ratan Sircar Hospital Medical College and Hospital, Kolkata, West Bengal |                       28041 |                         7 |

Apart from the above 60 clinicians have been trained throughout India under the training component.

(e) and (f): Currently, in phase two of UMMID Initiative, the DBT-UMMID-NIDAN Kendras Network has been expanded to 26 Centers nationwide across 15 States/UTs, including institutes from varied geographical locations.

In the State of Andhra Pradesh, DBT- UMMID-NIDAN Kendra has been sanctioned at Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh on 14th November, 2024 for a period of three years.

*****

State-wise distribution of children (below 18 years) and adults suffering from genetic disorders, enrolled in the National Registry for Rare and Other Inherited Disorders (NRROID)

| States/UTs         |   Above 18 years |   Below 18 years |
|--------------------|------------------|------------------|
| Andaman Nicobar    |                0 |                2 |
| Andhra Pradesh     |               92 |              497 |
| Arunachal Pradesh  |                3 |               20 |
| Assam              |              278 |              716 |
| Bihar              |               70 |              536 |
| Chandigarh         |               35 |               87 |
| Chhattisgarh       |                7 |               59 |
| Dadra Nagar Haveli |                0 |                1 |
| Daman Diu          |                1 |                1 |
| Delhi              |              158 |              788 |
| Goa                |                2 |                3 |
| Gujarat            |               55 |              301 |
| Haryana            |               97 |              441 |
| Himachal Pradesh   |               28 |              113 |
| Jammu Kashmir      |               12 |               84 |
| Jharkhand          |               18 |              150 |
| Karnataka          |              285 |              833 |
| Kerala             |               41 |              167 |
| Ladakh             |                0 |                4 |
| Lakshadweep        |                0 |                1 |
| Madhya Pradesh     |               79 |              357 |
| Maharashtra        |              287 |              913 |
| Manipur            |                2 |                6 |
| Meghalaya          |                1 |                1 |
| Mizoram            |                0 |                1 |
| Nagaland           |                2 |                6 |
| Odisha             |               15 |               82 |
| Puducherry         |                3 |               17 |
| Punjab             |              115 |              353 |
| Rajasthan          |               24 |              212 |
| Sikkim             |                0 |                7 |
| Tamil Nadu         |              213 |              902 |
| Telangana          |               82 |              630 |
| Tripura            |                0 |               22 |
| Uttar Pradesh      |              324 |             1927 |
| Uttarakhand        |               16 |               67 |
| West Bengal        |               81 |              453 |
| Total              |             2426 |            10760 |

## Annexure-B

State-wise details of screenings conducted and diseased Sickle Cell Anaemia individuals identified through screening in affected States

| State Name     | Total Screened   | Total No. of Diseased   |
|----------------|------------------|-------------------------|
| Andhra Pradesh | 9,29,380         | 1706                    |
| Assam          | 8,47,274         | 258                     |
| Bihar          | 11,976           | 1                       |
| Chhattisgarh   | 1,44,11,035      | 25378                   |
| Gujarat        | 35,58,702        | 5740                    |
| Jharkhand      | 21,98,507        | 2149                    |
| Karnataka      | 2,18,069         | 564                     |
| Kerala         | 1,06,753         | 1167                    |
| Madhya Pradesh | 84,69,811        | 25307                   |
| Maharashtra    | 49,91,803        | 19296                   |
| Odisha         | 47,62,739        | 89324                   |
| Rajasthan      | 36,24,600        | 2947                    |
| Tamil Nadu     | 2,58,162         | 495                     |
| Telangana      | 4,33,449         | 836                     |
| Uttar Pradesh  | 6,48,371         | 18                      |
| Uttarakhand    | 1,64,532         | 2                       |
| West Bengal    | 1,907,613        | 5422                    |
| Total          | 4,75,42,776      | 1,80,610                |

State-wise distribution of Thalassemia patients enrolled in National Registry for Rare and Other Inherited Disorders (NRROID)

| State/UT           |   No. of patients suffering from Thalassemia |
|--------------------|----------------------------------------------|
| Andhra Pradesh     |                                           43 |
| Arunachal Pradesh  |                                            7 |
| Assam              |                                          544 |
| Bihar              |                                          159 |
| Chandigarh         |                                           26 |
| Chhattisgarh       |                                            7 |
| Dadra Nagar Haveli |                                            1 |
| Daman Diu          |                                            1 |
| Delhi              |                                          237 |
| Gujarat            |                                           31 |
| Haryana            |                                          129 |
| Himachal Pradesh   |                                           31 |
| Jammu Kashmir      |                                            3 |
| Jharkhand          |                                           25 |
| Karnataka          |                                          155 |
| Kerala             |                                            4 |
| Madhya Pradesh     |                                           96 |
| Maharashtra        |                                          383 |
| Manipur            |                                            1 |
| Meghalaya          |                                            0 |
| Odisha             |                                           12 |
| Puducherry         |                                            2 |
| Punjab             |                                          130 |
| Rajasthan          |                                           19 |
| Tamil Nadu         |                                          313 |
| Telangana          |                                           71 |
| Tripura            |                                            4 |
| Uttar Pradesh      |                                          493 |
| Uttarakhand        |                                           13 |
| West Bengal        |                                           53 |
| Grand Total        |                                         2993 |

State-wise distribution of Cystic Fibrosis patients enrolled (through hospitals) in ICMR funded Centre for Advanced Research on Childhood Respiratory Disease project

| State/UT      |   No. of patients suffering from Cystic Fibrosis |
|---------------|--------------------------------------------------|
| Delhi         |                                              143 |
| Jammu Kashmir |                                               64 |
| Rajasthan     |                                               34 |
| Tamil Nadu    |                                               50 |
| Grand Total   |                                              291 |

## Annexure-E

The number of genetic screenings conducted and individuals trained in each state, particularly through Nidan Kendras, State/UT-wise.

| NIDAN Kendra   |   Total | Institute/ State                                                                                                                                                                                                                                                                                 |
|----------------|---------|--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|
| Andhra Pradesh |       1 | - Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh                                                                                                                                                                                                                       |
| Assam          |       1 | - Assam Medical College &Hospital, Dibrugarh, Assam                                                                                                                                                                                                                                              |
| Bihar          |       1 | - All India Institute of Medical Sciences (AIIMS), Patna, Bihar                                                                                                                                                                                                                                  |
| Chandigarh     |       1 | - Government Medical College &Hospital, Chandigarh                                                                                                                                                                                                                                               |
| Chhattisgarh   |       1 | -All India Institute of Medical Sciences (AIIMS), Raipur, Chhattisgarh                                                                                                                                                                                                                           |
| Delhi          |       2 | -Army Hospital Research and Referral, Delhi -Lady Hardinge Medical College, Delhi                                                                                                                                                                                                                |
| Jharkhand      |       1 | -Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand                                                                                                                                                                                                                                |
| Jammu &Kashmir |       2 | -Government Medical College, Srinagar, J&K -Sher-i-Kashmir Institute of Medical Sciences, (SKIMS), Srinagar, J&K                                                                                                                                                                                 |
| Karnataka      |       2 | -Bangalore Medical College and Research Institute, Bangalore, Karnataka -Command Hospital Air Force Bangalore, Bangalore, Karnataka                                                                                                                                                              |
| Kerala         |       2 | -Government Medical College, Kozhikode, Kerala -Government Medical College, Thiruvananthapuram, Kerala                                                                                                                                                                                           |
| Mizoram        |       1 | -Civil Hospital Aizawl, Mizoram                                                                                                                                                                                                                                                                  |
| Madhya Pradesh |       1 | -All India Institute of Medical Sciences (AIIMS), Bhopal, Madhya Pradesh                                                                                                                                                                                                                         |
| Maharashtra    |       4 | -All India Institute of Medical Sciences (AIIMS), Nagpur, Maharashtra -Mahatma Gandhi Institute of Medical Sciences, Sevagram, Maharashtra -Armed Forces Medical College, Pune, Maharashtra -National Institute for Research in Reproductive and Child Health (ICMR- NIRRH), Mumbai, Maharashtra |
| Odisha         |       1 | -All India Institute of Medical Sciences (AIIMS), Bhubaneswar, Odisha                                                                                                                                                                                                                            |
| Rajasthan      |       2 | -Sawai Man Singh Medical College, Jaipur, Rajasthan - All India Institute of Medical Sciences (AIIMS), Jodhpur, Rajasthan                                                                                                                                                                        |
| Telangana      |       1 | - Nizam's Institute of Medical Sciences, Hyderabad, Telangana                                                                                                                                                                                                                                    |
| Uttar Pradesh  |       4 | -King George Medical University, Lucknow, UP -All India Institute of Medical Sciences (AIIMS), Gorakhpur, UP -Aligarh Muslim University, UP -Institute of Medical Sciences (IMS), BHU, Varanasi, UP                                                                                              |
| Uttarakhand    |       1 | -All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand                                                                                                                                                                                                                         |
| West Bengal    |       1 | -Nil Ratan Sircar Hospital Medical College and Hospital, Kolkata, West Bengal                                                                                                                                                                                                                    |
| TOTAL          |      30 |                                                                                                                                                                                                                                                                                                  |

*****