The routine “Sahaj” Genetic clinic at Sahyadri Hospital is nothing like other specialist OPDs. Patients with families in the waiting area, a pregnant woman worried about a recurrence of abnormalities as in her previous child, another cancer patient, a govt employee worried about passing cancer on to his children, and a concerned couple with 3 spontaneous abortions and failed IVF.
In a corner, another family is sitting on the floor: a dejected father, Vikas, working in the floor tiles industry. Two wailing kids are about 2 and 4 years of age, and the mother, Asha, is trying to calm them. Having run from cities to doctors of various specialities and hospitals, govt and private, with no answers this seemed another similar long wait. At first look kids seemed out of the world, bald, with wrinkled skin, lean emaciated, irritated to be at the hospital, with one previous similarly affected girl who expired at 4 years.
Life is cruel to some! After a thorough evaluation and genetic tests of the kids’ blood, the family is given the next appointment. Over the weeks that follow, the disease is confirmed. Parents are tested, and each is found to be a carrier of the faulty gene, which has been passed on by both to the affected.
children. Counselled and reassured the followup and management under the guidance of Clinical geneticist continues. A few months later Asha is pregnant, testing of the baby in the womb shows not to be affected with same illness as their previous children. A reason indeed.. to celebrate after years of medical crusade chasing the unanswered questions. The revolution in clinical Genetics had already begun!
All of us have been familiar with the field of Genetics all along, but mostly as a reseach branch.
Since the deciphering of the DNA structure by Watson and Crick, Genetic discoveries and technological evolution in Genomics have been astounding. Gene therapy for certain disorders has seen the light of day! Immunotherapy emerged as another magic bullet in the arsenal of oncologists. From an era where access to a Karyotype test was limited due to the availability of certified Labs in Cosmopolitan cities, today, next-generation sequencing has logistically reached even rural India! It’s time medical genetics as a speciality got its due.
Each medical disorder has some underlying genetic aspect and influence. For a few diseases, the impact is significant for others not so much, yet compounded by multiple predisposing factors. Today, you named it a medical speciality, and you have genetics playing its role! In Obs-Gyne and Peads from diagnosing, managing and counselling patients with recurrent spontaneous abortions,
congenital anomalies or rare disorders, to Cancer clinics diagnosing inherited malignancies and assisting and guiding tumour tissue molecular genetic analysis and therapies. When and where indicated Clinical geneticists undertake fetal autopsies to seek clues and diagnosis.
As our knowledge and experience in the medical field continue to advance, today, molecular genetic diagnosis of various Metabolic, Neurological, cardiovascular, immunological, skeletal disorders, etc., is relevant to understanding and identifying the underlying cause, the associated risk to other organs systems, progression of the disease and refer relevant literature and database for answers. Questions about whether the disorder is hereditary and the risk to siblings and offspring could also be answered.
The field has moved beyond the premises of genetic counselling into proactive interdisciplinary clinical research, patient management and therapeutics. Numerous ongoing targeted therapy drug trials are a testimony.
Having ventured admist patient care in clinics the roots stay strong in the laboratory alike. From PCRs which have been the backbone for molecular tests to enigmatic and ever evolving heritage of NGS, molecular genetic diagnostics is outcompeting itself! The epic Human genome project took over 15 years to sequence the entire genome of a single human being. Current NGS technology boast doing the task in mere few hours!!
The gap in the genetic research and clinical applications needs bridging at a rapid pace. With a scarce intelligentsia of qualified, trained and certified Clinical geneticists, who again primarily focus on reproductive genetics, opportunities are aplenty in Oncogenetics, Neurogenetics, Cardiogenetics, Nephrogenetics etc. waiting to be taken!
Genetics is intriguing and enigmatic indeed. To some, the means and methods. To others, science and research, but for a few passions!!
FAQs
How is genetics used in patient care? Genetic testing helps diagnose conditions, predict disease risks, and guide treatments.
What is the role of genetics in hereditary diseases? It identifies genetic mutations passed through families, helping manage or prevent diseases.
How does genetic research benefit cancer patients? Genetic profiling identifies specific mutations, enabling targeted and personalised therapies.
Can genetic testing predict all diseases? Not all diseases are genetic, but testing helps identify predispositions to certain conditions.
What ethical considerations surround genetic testing? Privacy, informed consent, and the psychological impact of results are important concerns.
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