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Genetics From Lab To Patient Care!!


Routine “Sahaj” Genetic clinic at Sahyadri Hospital, is nothing like other specialist OPDs. Patients with families in waiting area, a pregnant woman worried about recurrence of abnormalities as in her previous child, another cancer patient, a govt employee worried about passing cancer on to his children, a concerned couple with 3 spontaneous abortions and failed IVF.

In a corner another family sitting on floor, a dejected father Vikas, working in floor tiles industry, two wailing kids about 2 and 4 years age, mother Asha trying to calm them. Having run from cities to doctors of various specialties and hospitals govt and private, with no answers this seemed another similar long wait. At first look kids seemed out of the world, bald, wrinkled skin, lean emaciated, irritated to be at hospital, with one previous similarly affected girl who expired at 4 years.

Life is cruel to some! After a thorough evaluation and genetic tests from blood of the kids the family is given next appointment. Over the weeks that follow the disease is confirmed. Parents tested and each are found to be a carrier of the faulty gene, having 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 has been astounding. Gene therapy for certain disorders has seen light of the day! Immunotherapy emerged as another magic bullet in the arsenal of oncologists. From an era where the access to a Karyotype test was limited due to availability of certified Labs in the Cosmopolitan cities, today Next generation sequencing has logistically reached even the rural India! Its time Medical Genetics as a speciality gets its due.

Each Medical disorder ever known has some underlying genetic aspect and influence. For few diseases the impact is significant for others not so much yet compounded by multiple predisposing factors. Today you name 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 tumor tissue molecular genetic analysis and therapies. When and where indicated Clinical geneticist undertake fetal autospies to seek clues and diagnosis.

As our knowledge and experience in the medical field continues to advance, today molecular genetic diagnosis of the various Metabolic, Neurological, cardiovascular, immunological, skeletal disorders etc is relevant to understand and identify the underlying cause, the associated risk to other organ systems, progression of disease and refer relevant literature and database for answers. Questions whether the disorder is hereditary and risk to siblings and offsprings 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 passion!!


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