The Board of Genetic Counseling, India (BGCI), conducted its 6th Annual International Conference, virtually, from 2 – 4 July, 2021. Themed ‘Genomics And Genetic Counseling: Value In Health Care’, the conference was attended by 3000 registrants across 30 countries, with leading faculty – from USA, UK, Canada, Europe, Australia, New Zealand, Hongkong, Singapore, Malaysia, Philippines and UAE, besides India – delivering and holding interactive panel discussions. (For details and recordings: bgciconference.com).
Aimed at updating the knowledge of genetic counselors, medical practitioners and students from various fields, interested in genetics, genomics and genetic counseling, the conference was arranged by Organizing Chairpersons – Dr. Prochi Madon (Honorary Consultant Geneticist, Jaslok Hospital) and Dr. Jaya Vyas (Metropolis), along with organizing secretaries – Gayatri Iyer (Life Cell) and Areeba Khan (Freelance counselor, Dubai).
The fast pace of development in genetic/genomic technology, with the use of bioinformatics and artificial intelligence (AI) in patient care was discussed by established company representatives like Illumina, Agilent, Thermo-Fischer, Face 2 Gene and entrepreneurs in the field. The conference highlighted why tests at the chromosome and gene level are necessary for the precise identification of over 20,000 genes responsible for causing diseases. Each gene has specific variations or mutations some of which cause a problem, whereas others are normal. Identification of the particular gene and variant is necessary to plan targeted therapy in some disorders and to prevent the abnormality from recurring in future pregnancies.
To utilize these new technologies and help patients with various genetic disorders, Genetic Counselors (GCs) closely interact with patients, their families and clinicians. With the boom in knowledge and increase in genetic diagnostic services, the need for genetic counselors is increasing. GCs help families and healthcare professionals identify the right test, interpret results and explain reports, enabling them to make informed decisions for appropriate healthcare management. A detailed family history taken by a GC determines the risk of the same problem recurring in their family. Counselors understand the emotional, psychological, social and legal implications involved and explain this both prior to and after testing. They support families during the decision-making process.
Two patient centric sessions were conducted – a Workshop on Prader Willi Syndrome (PWS), a neurobehavioral problem with obesity; and a Panel discussion: ‘Alone, Yet Aloud’ moderated by Dr. B.R. Lakshmi, Founder Trustee, Muscular Dystrophy (MDCRC) and VP – BGCI. Dr. Prochi Madon, who was felicitated with the prestigious ‘Professor I C Verma Lifetime Achievement Award’, at the 45th Annual Conference of the Indian Society of Human Genetics (Chennai, Feb 2020), stressed on the need for early intervention in several genetic disorders. “Parents should be alert to signs of developmental delay in children or other unusual medical conditions, as timely help can prevent irreversible damage to multiple organs including brain, heart, liver and kidneys. Public awareness on the importance of DNA testing for diagnosis of an affected child or stored DNA prior to planning the next pregnancy is needed. Only when the disease-causing variant is identified, accurate prenatal diagnosis is possible,” she said.
Facilities are available in India for preimplantation genetic testing (PGT) too, for affording couples where both partners are carriers of single gene disorders, like thalassemia. In these cases, there is a 25% chance that the abnormality can recur in the next pregnancy. Even though fertile, such couples can opt for a test-tube baby by IVF as this enables additional testing to select unaffected embryos and avoids trauma of repeated termination of affected pregnancies. Awareness of the importance of new-born screening for metabolic disorders was created in India by constant public demands to the government for implementation of the new-born screening program. Many couples now get the testing done at private centres.
With increasing demand for genetic testing, the need for genetic counselors is increasing worldwide, especially in India. The BGCI – India was constituted in the year 2014 by senior members in the field of Human Genetics in India, led by its President, Dr. Q. Annie Hasan. Today, India boasts of 161 certified and practicing genetic counselors. Skill India has recognized Genetic Counseling as a profession and laid guidelines (awaiting ratification from Ministry of Health and Family Welfare). Efforts are on to get genetic counselors into teaching hospitals, medical colleges and the government sector to expand the reach of Genetic Counseling and Diagnosis. Students interested in pursuing a career in Genetic Counseling could log on to the BGC-I website: www.geneticcounselingboardindia.com
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