Why Genetic Counseling is important for all couples specially newly married.
In India out of every 10000 babies born 644 has birth defects.
10 out of every 200 babies admitted to hospital has Genetic Disorder leading to death of 10 out of every 100 babies.
India has higher Genetic Disorders than global average, These figures are very alarming & often haunts couples who are planning for a baby, what if my future baby is one of them? what can we do? take Genetic counseling for before you plan for a baby.
What is IVF Genetic Counselling?
Husband & wife planning for a baby & want a healthy child can takes advice from a Genetic Expert regarding risks of probable genetic disorders & how that might affect their future children. As the famous saying quotes “Precaution is Better than Cure”
In Genetic Counselling a Genetic Counsellor will take complete family history of both Husband & wife for any disease or disorders. The Genetic Expert on basis of the history analysis will suggests Genetic diagnosis tests to find out risk of genetic disorder which has chance of getting transferred to their future children.
According to Government of India, Ministry of Health and family welfare 80% of the rare diseases are genetic in origin. If you are newly married & planning for a healthy baby, it is very important for the couple to go for Reproductive Genetic counselling to give your upcoming baby a healthy future.
A Genetic Counsellor with Infertility/IVF experience & knowledge would be the best person to take advice but such combination of knowledge & experience is very rare in India.
But at Akruti IVF Our Clinical Director (Dr. Sayali Kandari M.S, PhD –USA) is a Genetic Expert with in-depth knowledge & Experience of Infertility/IVF & Clinical Embryology. She has published various Research Publications in infertility & one of the most sought- after Speaker in Indian & many Foreign Conferences.
India has a very large population (Rank 2nd in world) and lot of diversity with unique gene pool & genetic structure. The Genetic Disorder in India is quite high as compared to the western countries due to following reasons.
- Marriage within close family (Consanguineous) – also known as Consanguineous Marriage (related or descended of same ancestor), Marriage within the close family is practiced in many caste & communities thus there is a high incidences of genetic disorders.
- Endogenous Population – India is covered from 3 sides with water thus traditionally the population marry within the country, For centuries the population has been genetically isolated which has amplified the effects of initial genetic factors.
- Migration – Multiple migration within the country creating gene pools with disease causing gene present more commonly in both Husband & wife.
- Culturally heterogeneous Population – Due to the diverse culture among the large population the gene pool has mixed up and become like a large bowl with huge variety of food mixed together.
Due to the unique position of India in genetic structure, the number and incidence of Genetic disorders are quite high, some of the mentioned below;
- Sickle Cell Disease
- Alpha and Beta Thalassemia
- Gaucher’s Disease (rare in world but higher incidence in India) (Type 1 and Type 2 highly lethal Type 3 severe symptoms with high cost burden in lifetime of child )
- Duchenne Muscular Dystrophy ( debilitating and lethal condition)
- G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency
- Down syndrome
- Amino acid disorders
- Congenital Malformations
- Cystic Fibrosis – affects 1 in 10000 babies, life of 20 to 25 years with expensive medical treatment & care.
- Neuromuscular and neurodevelopmental (NMND) group
- Duchenne Muscular dystrophy
- Trinucleotide repeat expansion disorders – commonly found in India
- Fragile X syndrome
- Myotonic dystrophy type 1
- Spinocerebellar ataxia (types 1, 2, 3, 6, and 7)
- Friedreich ataxia
- Huntington disease
- Inborn errors of metabolism (IEM)
- Tay-Sachs disease
- mucopolysaccharidosis IVA diseases.
- Non-syndromic hearing loss
- Congenital adrenal hyperplasia (CYP21A2:c.29–13 C > G)
- Progressive pseudo rheumatoid dysplasia (CCN6:c.298T > A)
Some of the other common Genetic disorders in India include
- Haematological disorders: A prevalent rare genetic disease in India
- Lysosomal storage disorders (LSDs): A prevalent rare genetic disease in India
- Neuromuscular and neurodegenerative disorders (NMND): A prevalent rare genetic disease in India
- Primary immunodeficiency diseases (PID): A prevalent rare genetic disease in India
- Mitochondrial diseases: A prevalent rare genetic disease in India
- β-thalassemia (β-thal): A common genetic disorder in India, with a prevalence of 1.4–3.4% in central India
- Hemophilia A: A common genetic disorder in India, with a prevalence of 0.9 per 100,000 people
- SMA: A common genetic disorder in India, with an incidence of 1 in 10,000 newborns
- Cystic fibrosis (CF): A common genetic disorder in India, with an incidence of 1 in 40,000–100,000
Due to the lack of standardized testing and screening many such disorders are missed in Obstetrics and Gynaecology hospitals. Even large hospital setups with Sr. Gynaecologist & Paediatrician Doctors lack the knowledge in Genetics.
Unfortunately when such child is born in the family, he/she has a less chance of surviving & having a normal life; such child has to be constantly supervised & needs constant medical attention throughout their life. Such parents not only have to incur a huge cost to support such child but goes through a huge emotional trauma, physical & mental Pain & Pressure.
Such suffering couples have an intense fear and anxiety of taking another chance at having a genetic disorder free child. The old standard of doing Pre Natal testing at 12 weeks is still suggested in India without giving patients the right counselling and Fertility Genetics consult.
Many senior Genetics professionals lack the newest know how in understanding how Pre Implantation Genetics can play a life changing role in screening out Genetic disorders at level of embryo and before conception results.
Pre Implantation Genetics for Single Gene Disorders (called PGT-M, called PGD before 2018), is a treatment paradigm shift where Next Generation Sequencing and molecular genetics is used with conjunction of highly sensitive Genetic Fertility Clinic which has expertise in performing Embryo Biopsy which is a microscopic surgery of the Embryo to remove less than 2% of cells of placental origin in a differentiated embryo which is at the stage of transferring in the mother’s womb.
Our Clinical Director & Reproductive Genetic Expert Dr Sayali Kandari is India’s only ‘Embryo-Geneticist’ with a Dual specialization in Clinical Embryology by Cleveland Clinic and American Society of Reproductive Medicine as well as Reproductive Genetics certified from Maharashtra University of Health Sciences and further in Pre-Implantation Genetic Testing from premier training institute in Embryo Biopsy, ‘Embryotools Spain’.
With the ability of deep level sequencing using Sanger Sequencing (gold standard) and specifically selecting for the gene affected in both husband and wife, Pre Implantation Genetic Workup of couple is conducted in Genetic Laboratory.
Once the confirmation of affected disease causing genes is done, by selecting the most affected regions, the couple undergoes an Assisted Reproduction Treatment cycle also called IVF Cycle in laymen terms. This IVF cycle enables the Fertility team to make multiple embryoes in a single time to improve the chance of finding embryoes which are genetic disorder free.
Embryo Biopsy is conducted under a highly sensitive and Dedicated Genetic Fertility Clinic where DNA and RNA standards are maintained and an In House Geneticist monitors the Quality of the Genetic procedures conducted.
Most IVF Laboratories in India are designed only for treating Infertility IVF patients and do not have facility for Embryo Genetic Testing (separate Genetic license is required), and do not have dedicated, certified & experienced embryo biopsy expert.
Pre Implantation Genetic Testing will screen out embryoes with 99.8% accuracy.
A confirmatory Pre Natal Testing is recommended at 12 weeks called Chorionic Villus Biopsy which is conducted by an Fetal Medicine Specialist in Akruti IVF centre.
It is possible to build a Genetic disorder free family without the pain of multiple abortions and taking the risk of carrying a fetus with lethal disease.