Our physician expert is Dr Shruti Bajaj, a Clinical Geneticist practicing in Mumbai. In addition to operating a clinical genetics consultation and education platform called ‘The Purple Gene™’, Dr. Bajaj is also a consultant with Narayana Health SRCC Children’s Hospital, Cloudnine Hospital and Suchak Hospital in Mumbai.
It is wonderful to have you in this program and thank you for being part of this initiative. Our readers would like to hear about you. Please describe your clinical expertise.
I am a Pediatrician by qualification. I have super-specialized in Clinical Genetics through Maharashtra University of Health Sciences’ accredited Fellowship training program at Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai.
As a Clinical Geneticist, my work includes analyzing the clinical history, eliciting a pedigree chart, carrying out detailed physical examination, postulating the possible mode of inheritance of the disease, advising and arranging for the special genetic tests, conducting pre and post-test counseling, formulating surveillance plans, offering treatment options when available and helping the families to understand the risk of the other members to develop a given genetic condition.
I hope to use my training to help genetic services reach the common man’s doorstep and facilitate timely diagnosis, so that the families can reap maximum benefits of modern science.
Tell us a little bit about how genetic testing is used in India and its challenges.
Many a times the clinical profile and symptoms of diseases have an overlapping phenotype, and it is difficult to clinically arrive at a diagnosis. However, the availability of microarrays and next generation sequencing is fast revolutionizing Medicine, even in India. These tests are fast entering the busy specialty and super-specialty OPDs. Oncologists, neurologists, hematologists, cardiologists, nephrologists, pediatricians, fetal medicine experts, immunologists, endocrinologists and ophthalmologists are probably amongst the specialists ordering these tests. These tests are expediting the diagnostic process and helping to nail many genetic disorders.
Though these tests are relatively easily available in the major cities, uniform accessibility and awareness about the strengths and limitations of these newer tools is lacking. The dearth of genetic experts for a population of 1.2 billion makes the penetrance of these tests in all pockets of the country and its rational and responsible application, challenging.
Clinical genetics is relatively a new field in India. What is the prevalence of genetic disorders?
With regards to the perceived rarity of genetic disorders, it is simply that we haven’t yet completely woken up to the relevance of this branch for the Indians. Extrapolating the global burden of genetic disorders (approximately 7%) to the mammoth Indian population, we probably have a burden of 840 lakh individuals suffering from genetic diseases. Improving sanitation and immunization in India is translating to a fall in communicable diseases and a rise in the non-communicable ones. Club this with the practice of endogamy and consanguinity, commonly followed by the communities in this belt; it is not difficult to see that the current visible burden of the genetic disorders in India is just the tip of the iceberg.
How many Clinical Geneticists are practicing in India?
According to a recent publication by Aggarwal S and Phadke S dated 2015, there are 40 qualified and trained Clinical Geneticists in the country.There are training modules in our country, ranging from a 15-day course for clinicians (at SGPGI Lucknow), to one-two year fellowship courses, to a full fledged 3 year DM course.
Are genetic disorders being diagnosed in a timely manner?
In a recent research highlighting the scenario of lysosomal storage disorders (LSDs) in India, which I had the good fortune to be a part of, the time profile of 119 patients with LSD from onset to final diagnosis was noted. The median time interval between disease onset and clinical suspicion was 6 months, the median interval between onset and presentation to the Genetic Clinic was 12 months, while the median interval for the subsequent diagnosis by the Geneticist was barely one month. This highlights that the delay in the diagnosis is primarily because of delayed suspicion and referral to the specialist, rather than the work up which subsequently ensues. Similar results highlighting delayed diagnosis were produced in a study by the Hospital for Sick Children in Toronto too, while addressing the time profile of patients with metabolic disorders.
These examples provide a useful template to understand the primary physician’s awareness towards genetic disorders, as a whole. The lack of an intensive curriculum in genetic red flags during MBBS (Bachelor of Medicine, Bachelor of Surgery), mimicking nature of genetic disorders with other commoner conditions, lack of information about the benefits of a timely diagnosis and the perceived rarity of genetic diseases; are amongst the few factors which lead to the delay in suspicion and diagnosis. Timely diagnosis is very important, to be of any practical benefit in the patient’s life.
What would you like to convey to families who are facing genetic disorders about the implications of genetic testing?
Starting from the seemingly least advantageous to the more fruitful outcomes:
- Closure for the parents and end of a long diagnostic odyssey. Genetic tests when applied carefully, often truncate the need for further unnecessary tests (sometimes with a potential harm; e.g. muscle biopsy)
- Knowing the disease, helps in more reliable prognostication and patient education.
- Planning a surveillance program, unique to the disease. For example, a child with Down syndrome, once diagnosed will be kept on a regular monitoring for blood parameters, thyroid profile, eye check up, hearing assessment amongst other parameters; because of the nature of the disease. Early detection of the known complications can sometimes nip the problem in the bud, by timely institution of corrective therapy when available.
- Special targeted therapy based on the result of the genetic tests. We see in oncology and immunology, how the type of the mutation detected can sometimes have a bearing on the drug/ treatment modality chosen. Speaking of LSDs, there is enzyme replacement therapy now available for some of these disorders, which can infuse a new life in these individuals.
- If the mutation has been nailed and the clinician knows the genomic diagnosis, the subsequent counseling becomes more reliable. One can perform genetic counseling about the risk of the disease recurring in the future generation and help the family develop means to cope with the risk, or mitigate it when possible. Timely diagnosis can help to prevent a recurrence of a genetic disorder in the next baby, through prenatal and preconception genetic diagnosis.
What is the selection process for outsourcing genetic testing to a laboratory?
There are many labs which have mushroomed in India in the last few years. Physicians choose the labs based on different factors. Reliability of the results is of course of paramount importance. The other factors which probably go in play when specialists from different branches order the tests are: awareness about the lab options, their accessibility, affordability, the turn over time, sensitization about the scientific strengths and weaknesses of one lab over the other, the provision of an inclusive genetic counseling service and need for recall of the result.
With the number of breast and ovarian cancers on the rise in India, what is your experience in patients undergoing genetic testing for these cancers? Other than BRCA1/2, do you see mutations in other breast cancer genes?
Breast and ovarian cancers are being increasingly detected in the South Asian population. Cancer genetic testing, being expensive, is not always requested for. The burden of hereditary cancers is thus, in high probability, under-appreciated.
Genetic testing in cases which bear the red flags for HBOC (example: premenstrual breast cancer, male breast cancer, ovarian cancers, multiple cancer types on the same side of the family etc.), have a role in improving the treatment/ surveillance strategies for the affected as well as the extended family members, carrying the deleterious gene. May one stress, that it is necessary we look beyond just the BRCA1 and BRCA 2 while approaching HBOC. We see mutations in other genes too, for example: TP53, PTEN, PALB2 etc.
Are any of the genetic or genomic assays currently covered by insurance? Is there a push to cover more tests by insurance?
There is no universal health insurance scheme in India. Health care funding is mainly made directly out-of-pocket by nearly 71% of all patients. Many-a-times due to non-affordability, the tests are requested by the physician, but never carried out.
Can you please share one insight based on your experience that will help improve health outcomes in India?
Primary physician sensitization about the red flags for early suspicion of genetic conditions and greater political commitment for financial coverage of the tests involved will go a long way in melting the proverbial iceberg of genetic disorders.
Thank you very much, Dr Bajaj for taking the time to speak with us. Your insights are greatly appreciated!
- Aggarwal S, Phadke SR. Medical genetics and genomic medicine in India: current status and opportunities ahead. Mol Genet Genomic Med. 2015;3:160-71. doi: 10.1002/mgg3.150
- Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J Pediatr 2015;82:525-29.
Disclaimer: Interviews are published unedited or with minimal changes.