After two decades of knocking at the periphery, telehealth is slowly being accepted into the core of the healthcare delivery system and is now centre stage. Sub specialities in telehealth will soon be a reality. Telegenomics, the application of telemedicine for genetic counselling (GC), is an untapped area. Increasing awareness of preventive medicine, acceptance of telehealth and widespread availability of reliable good connectivity makes remote GC eminently doable. Whatever can be accomplished in a direct face-to-face consultation can be achieved in a virtual session.
Medical genetics is a rapidly emerging discipline with more geneticillnesses now being identified. 7,000 genetic disorders occur with a prevalence ranging from one in 1000 to one in three million. Clinical geneticists in India are less than 85. Counselling the patient and the family is a major component in the practice of medical genetics.
Patients and relatives at risk of developing a genetically influenced condition need to understand nature of the disorder, probability of developing it and risk of passing it on to future generations. Education and emotional support to individuals and families facing genetic and inherited diseases is critical. Premarital and antenatal GC may be indicated. Genetic Counsellors translate genomic information into adaptable, clinically meaningful, compliant interpretations.
Extending the reach of these urban specialists to suburban India, virtually is an urgent requirement. Over 150 genetically based disorders have treatment improving Quality of Life. According to Market Research Future, the global genetic testing market will reach a compounded annual growth rate of 11.50 percent, worth over USD 22.8 billion between 2019-2024. The genetic testing market in India is growing at 15 percent annually to reach ₹400-₹500 crore. A basic genetic test in India costs between ₹3,000 to ₹70,000. Of the 26 million annual births in India, a million possibly have undetected genetic diseases.
Though use of genomic analysis in clinical management is limited, for 1.3 billion the absolute numbers are large. Referrals to genetic services are suggested if a patient is at risk of, or affected by, a genetic disorder or if molecular genetics of the pathology influences management.
What is genetic counselling?Communicating nature and implications of disorders with a predominantly genetic basis, to the at risk family is the basis of genetic counselling. Complexity of information to be given to a family necessitates a trained genetic counsellor. What good is genetic testing if the patient (and often family physician and specialist) does not understand in detail what the results mean or how this knowledge is to be applied?
Clinical applications. 10 percent of breast cancers are hereditary. 1 percent of the general population could carry a mutation in BRCA1 or BRCA2. BRCA mutations are associated with increased lifetime risk of breast cancer. The risk of developing breast/ovarian cancers in BRCA 1/2 mutation carriers is 65 percent and 45 percent, and that of ovarian cancer is 39 and 11 percent, by the age of 70. GC could play a major role in facilitating early diagnosis. Genetic counselling is crucial in prenatal diagnosis. In urban India, congenital malformations and genetic disorders are the third most common cause of mortality in new-borns. Genetic testing would be suggested if the mother-to-be has had two or more miscarriages or babies that died in infancy or if she is 35 or older.
Pharmacogenomics. In 2019, over 260 drugs discussed pharmaco genetics on their FDA labels, with 20,0000 publications. Genetic differences mean that a drug can be safe for one person but harmful for another. Pharmacogenomics helps understand why individuals respond differently to medicines. This is important in cancer chemotherapy.
Advantages of tele genetic counselling. Online telegenomic services would provide timely and flexible hours. Services of limited trained individuals in metros and state capitals can be made available in Tier II and Tier III cities. Samples (serum, saliva) from anywhere can be sent to genetic labs for testing. Genetic Counsellors work mainly in cancer genetics, cardiogenetics, neurogenetics, and infertility. GC has been associated with improved adherence to cancer risk management strategies and lower patient distress levels. Recent technologies of exome sequencing in combination with SNP microarray can identify causative genes in very small families.
Group Telecounselling for similarly afflicted families is in the author’s opinion an innovation which can be attempted. Preliminary reports in face-to-face group counselling in individuals with similar health dysfunctions have demonstrated that it is cost effective, covers a larger number of individuals and most interesting, is welcomed by the beneficiaries. Opportunity to exchange notes with those similarly afflicted leads to better compliance and adherence. Today with current video conferencing techniques this can be done individually or collectively remotely as well. Many of us are afraid of the future. We cling desperately to the present not realising that we have already become the past. We need to remember that the future is always ahead of schedule. It is just a question of time before telegenomics becomes a reality in India.