 Welcome to the show sir. Okay. Thank you. Thank you. How are you? I am good. Sorry for I don't know the technical. No, no. These are technical errors we cannot avoid. These are new things right sir for all of us. Learning. Yes, definitely. So sir without much further ado we'll get right into the topic. The topic for today is the general status of medical genetics in India. So sir before we start into the topic for the benefit of the viewers we would like to know sir what is medical genetics? So medical genetics is the discipline of medicine where we diagnose and manage hereditary or a genetic condition. So it is like any other specialty where we diagnose and management yes very little minimal but yes lot of things are there which is coming up and lot of things in prevention. Definitely. So as an MBBS student we always think of we think of doing our PGTs in certain topics like surgery, medicine. So sir I would like to know what piked your interest in this subject sir the medical genetics? Okay it is little strange. So basically after MBBS one of my friend happened to show me about this University of Glasgow and then there's a medical genetic course. So that time we had a very limited Google and all those things so but we happened to get hold of this course and it fascinated me and that time like we were very limited that the gene therapy will help in the treatment of the coronary artery disease how a gene can open up the clots all those things. So that fascinated me and then this was something different and then they were that time also there was lot of saturations in the specialties and all those things. So this fascinated me I just took that decision to go with this. To be honest I didn't know what the genetic and what is happening about genetics in India even in that point of time. Definitely and thank God you did. So now we will delve right into the proper topic. So what are the most common genetic disorders in India or what you come across in your day-to-day practice? Okay so in day-to-day practice so we all started with the genetic disease mainly on basis or promoting or educating about downstream. That was one of the primary thing and then apart from down syndrome spinal muscular atrophy dussian muscular dystrophy beta thalassemia so these are the common genetic condition what we see. So these are the some of the common conditions which we see but there are a lot of genetic conditions there are a few common conditions. Right sir. So sir as you have mentioned one of the most common diseases in India is beta thalassemia. So sir almost 10% of the thalassemia cases globally are found in India. So sir lifelong blood transfusion in these cases becomes a hassle for the patient as well as for the family sir with problems like hemochromatosis or things like that. So sir what role does genetic medicine play here? So genetics play a very crucial role here so first two as you are saying you are telling like you know lifelong blood transfusion and then if at all like bone marrow transplant again which is very costly affair and it is not easily available and the donor has to match and all those factors so what we know is the prevention is the better. So the hemoglobinopathy or beta thalassemia among them the incidence is very high. So the carrier status of beta thalassemia which is autosomal recessive condition where both the parents are carrying. So the carrier frequency itself is somewhere around 3 to 17% and if you ask some of the hemoglobinopathy like HBS HBE which is very common in the northeast part of the country and that goes somewhere near up to 40% also so you have to understand the carrier rate is very high so the only thing is that how early we can identify and prevent this so that's the reason now we are emphasizing on all pregnant ladies to whenever they are coming for the antenatal checkup first checkup during that time along with between blood implication of CBC and other thing we are recommending HBE electrophoresis because as we know in India Indian women are anemic so it's very common. So we need to find out is this anemia is it because of the beta thalassemia carrier or is it because of the nutritional and so we always recommend HBE electrophoresis once we identify that the the pregnant mother is a carrier then we need to check the other part and if he is also carrier then they are at 25% risk of developing a thalassemia major then we need to investigate that the gene level because you have to understand the beta globin gene there are more than 100 mutations are reported in literature the mutations are nothing but they change in the genetic position gene position so which will give rise to abnormal protein formation and with this abnormal protein formation the baby will have anemia and all other factors primarily thalassemia the low hemoglobin so we need to identify at the molecular level then we can offer a prenatal diagnosis at third month as early as third month that is around 12 weeks then we need to check the fetus and check the fetus with the molecular level because we cannot check HBE electrophoresis in the fetus so we need to identify defect at the molecular level and check the fetus and then we can inform the parents about the status of the fetus so like that we can prevent malaria okay and many other diseases similar to that sir like this right sir you have also mentioned sir so it has been seen that sir immunosynthesis can detect a large number of genetic disorders before the birth of a child but sir as we know it's invasive and there is also risk of abortion due to immunosynthesis so sir do we have any other technique by which we can detect these genetic disorders before birth yes sir there is a technique which is available which is what we call is a NIPT non-invasive prenatal testing okay so what is in this test so we it is like any other testing like double marker testing which is done primarily for Down syndrome so it is from the mother's blood so what we know in the pregnant mother 5 to 10 percent of her blood has a placental DNA placental DNA from where the fetus is growing so we can extract from that placental DNA and sequence along with mother DNA and some algorithm goes into it and then we can give the risk for Down syndrome okay so it is non-invasive there is no risk of abortion but it is more accurate for Down syndrome 99.2 percent or something is accuracy for Down syndrome not for each and every conditions so if you have other some structural defect or the high risk pregnancy okay so then if the risk is less than 1 in 100 then it would be advisable to do amno synthesis to take the fluid out of the mother's womb it is a USG guided procedure the risk of abortion with the experience and trained hand is very small less than 1 in 300 that is less than 0.5 percent but there we can look at lot of other defect at the chromosomal level or if there is any specific ultrasound finding is there then maybe at the even at the gene level but another important factor in this all this prenatal thing we need to understand that all this work up has to be completed as of now 20 weeks the MTP act allows only termination in 20 weeks after that you have to approach a forth and then take a special permission so this act has been amended and the bill has been passed in the Lok Sabha and we are awaiting Rajya Sabha hopefully in this session it will be passed so we will have a lot of breathing space for another 4 weeks and then we can decide about the pregnancy at 24 weeks so we need to finish all these things all these tests as a plus point of timing and limitation right sir so sir as we have as you have said that it's all basically diagnosing the conditions right sir so now sir as we have also seen that there is a declining trend of infant mortality rate in our country basically due to this the importance of preventing those birth defects becomes very crucial it's not just diagnosing it but also preventing it before it occurs right sir so sir can you give some measures to prevent those birth defects before it occurs okay so you have to understand the birth defect the cause it is multifactorial because of 50% of birth defect cause is not known and 50% where the cause is known again the 50% in the known cause accounts for the genetic cause so around roughly 25% we know it is because of some form of genetic origin either at the chromosomal level or at the gene level now so there are different way we can do as you said likely you know the infant mortality is decreasing so the so that way the more importance is being given we need to give for the genetic conditions so there are different ways of doing diagnosing a birth defect if it is pre-pregnancy you can do double test and quadruple test screening for Down syndrome and as I told you before pregnancy for hemoglobinopathy identifying those things and then after birth if you want to do the newborn screening newborn screening we should do and that is for the we can do from the common seven conditions to up to 40 to 50 conditions so that is from a baby's hill prick okay this gutery test what we call so from the baby's hill you take a hill prick and then screen for like around 50 metabolic conditions and this has to be preferably done within after 48 hours and if we identify any of those conditions then early detection and diagnosis can facilitate life saving treatment which can prevent the progression towards disability so those are certain conditions where we have some form of treatment or you can control the the progression to disability right sir yeah sir so what can we do like what counseling can we give to the couples who are trying to conceive so that they do not conceive children with bird defects like the pre prenatal counseling or even like we can sit down the couples and give pre marital counseling so that they do not have these bird defects in the future so can you say something about that yeah so you have to understand pre marital counseling what you mentioned that we do usually when in particularly in south India you know there is a consignate is there okay so we get lot of fine people coming different families coming for the they want to get married so they want to understand about the science about it so that time we do pre marital counseling we take detail family history into three to four generation minimum three generation to understand is there any genetic condition running in the family and then tell them about the different autosomal dominant autosomal recessive and all those things and we say that if there is one notion is there that people who marry within relation they are only at risk it is not like that when you marry with a relation chance of having genetic condition increases but when you marry outside doesn't mean you don't have this so as a geneticist we will never say any condition that you are at zero risk there is always a risk the risk may be low so because we as I told you like hemoglobinopathy autosomal recessive so many conditions are there where you can be a carrier so we carry 16 in recessive form so the only thing is that the other partner may not carry is the same recessive gene but when you marry within relation carrying the other partner because you are sharing the same genetic pool the other partner carrying same genetic carrier status increases so we advise as I told you that is for pre-marital counseling so they have to decide upon that basically there is no history so we say family history of any abortion, neuromuscular disorders or any intellectual disability then we say the risk is slightly higher than the population and the other thing what they can do is once they get married then we have certain tests to scream for around 500 genes 2000 genes of common autosomal recessive conditions okay so you have to understand end of the day there is nothing called 100% there is always a small risk we need to understand the condition or the risk and go ahead and if you have tests we can do those testing but nothing is 100% so we need to understand all those things the other thing what they can do is doing this down syndrome screening double marker test which is very important which is very highly detection rate is good when you combine it with a good ultrasound or during third one which we call as a nuclear transfusion c-scan which is nothing but the back of the neck of the baby which is a very good marker for her genetic condition chromosomal abnormality like down syndrome and other condition even genetic condition, single gene disorder also so with this we can get some idea and the good third month around 16 to 18 week anomaly scan looking at the baby anatomical all the brain and the kidney and everything is okay or not this is one thing and as I told you after birth the newborn screening and maybe the extended screening for tandem mass spectrometry for around 550 conditions right sir sir can you please elaborate on the newborn screening sir so newborn screening is nothing but you look at the heal creep and test the common common disorders like hypothyroidism, congenital adrenal hypoptemia, galactosemia gypsum speedy cystic fibrosis phenyl ketoneuria storage will come into we have to be very specific and that is at the gene level so we need to be very specific unless we have clue so as of now in India we have not started all those things because that will require lot of testing at the gene level so these are like the at the heal creep level so it gives a common condition so again you can debate like how many tests to add so that is always challenging so you know where you want to stop so you are saying you add double marker test, you add hemoglobinopathy, you add for all this NBS again this can extend to another 50 condition where around 40 to 50 inborn error of metabolism so there we can do all those things and then you have to understand there are any tests, there are plus points, there are negative points as I am telling you that doesn't mean it is a diagnostic test it is just early detection which from the population which can go into next level of testing diagnostic testing so and then there can be lot of positive because of the premature baby and low birth weight and other factors are there so all this need to understand but this helps in preventing certain condition as I told you identifying them early right sir so sir another important condition in our country that we can see in the children autism so sir does autism have any genetic component to it okay now autism is a multifactorial condition okay but you have to understand genetic is one of the component and the proportion of genetic causes or etiology is increasing now what we know like around 50 to 40 percent has a some form of genetic etiology okay so the autism and genetic is a the incidence is increasing another thing you have to understand according to CDC the incidence rate, prevalence of autism is 1 in 54 okay that is very very high okay now with lot of awareness and all those things we are able to educate common public and the clinician about town syndrome which has incidence rate of somewhere around 7 and 1 in 700 to 800 so can you imagine where is 1 in 700 and 1 in 64 so autism is again increasing the incidence is high and there is a strong genetic association so there are different testing available for autism so early so they say autism if you pick it up for that matter any condition and particularly genetic condition if you pick it up early you can help the kid it can be picked up as early as when the baby is not recognizing the social spine and then they are more focused towards the object and then the the babbling is not happening around 6.1 to 1 year and they are not able to follow your thing all those things are there early what we call it as a red flag okay the other thing what we later what we see is this speech delay so these are some of the early clue which we can get from autism so another thing see if you pick it up early then you can help them with lot of this speech therapies and other language therapies so which is sort of help to the children so there are certain tests to find out the cause of autism or genetic pathology like chromosomal microarray is nothing but checking the chromosome, checking the chromosome and the higher resolution so we can check the chromosome roughly 50 to 100 times higher resolution and check for all this all for deletion duplication which cannot be picked up by their conventional therapeutic then you have to do fragile x screening, fragile x again so on genetic condition where we have intellectual disability and and then they have infertility and other thing but the form of fragile x, full fragile x syndrome can mimic like autism so that is another what is recommended then if you further want to do you can look at the I.M. screening then at the gene level so you have to understand more than 100 copy number variation that is deletion duplication has been reported and more than sorry more than 1000 and more than 1000 genes have been reported with the autism so there are multiple states you have to do for autism to understand the etiology of the autism and obviously the therapy is important diagnose it early and help the kid with the therapy so are diseases like red syndrome being misdiagnosed as autism and where you come in sir like the as geneticist you can diagnose the red syndrome yes no red syndrome we can diagnose so what you and it is not misdiagnosed so you have to understand as I told you autism fragile x is very prominently is the more commonly associated similarly red also can present as an autism so it is a why you have to understand autism is now called as autism spectrum disorder disorder right sir it comes under the spectrum yes so red when you have a with the behavioural issue you need to screen for red syndrome do that with the additional test if it is a female with suspicion for red autism so that one and then definitely we have that as I told you when I said 1000 genes are there associated so in that MECP is one of the gene which is one of the gene for autism also so MECP 2 gene is for the red syndrome so we can identify the red syndrome right sir so sir so what can you tell us about genetic testing it is one of the things which also interested you in your MBBS days or to be honest MBBS days that is long back so genetics in our time I think more or less it is not changed that much it was part of first MBBS one more question for the genetics along with the entomology and I think histology and all those things but yes genetics but in today's time it has to be definitely more so that one common challenge we always now also we are facing may be little better but whenever you talk about any condition the first thing is not the diagnosis first thing the patient or lot of people ask the treatment which is not correct which I tell everybody for any condition you have to like know what is the current condition what we are facing pandemic so we need to diagnose it it is not that just like any other flu you say and then start treating like a go so same thing applies even in genetics but unfortunately the second part that treatment is little minimal in genetic condition so back to what I am trying to say with testing and diagnosing is still important but again genetic testing are costly compared to routine testing but I won't say that costly but if you consider some of the IN testing of regular medicine MRI and some other thing this is also quite not that costly now another thing what I want to say is the testing there are different testings are there but understanding the different etiology when we say genetic testing so one is if you want to explain it is in the macro level is chromosomal abnormality so looking at the chromosomes numbers and deletion duplication so you do if you are suspecting Down syndrome Turner syndrome all those things ok so it is simple caretaping would be enough that intellectual disability behavioural issue other thing the morphism then chromosomal microarray is a must that is recommendation and then the other testing is at the gene level gene level testing now we have a new technology which is called as a next gen sequencing NGS where we can sequence multiple gene together so we can sequence the whole genome also ok so it is comparatively very cheap and comparatively fast but what is the if you are looking for a cystic fibrosis then we know only one gene to be checked CFTR so you can do like that if you are looking at a chondroclasia which is like a short stature and all those thing that you require only one mutation so again in molecular this can be further divided from starting from PCR testing to cellular testing to NGS so these will detect the point mutation and then something another test what we call as a deletion duplication so there are different types of test is there so we need to understand what we are suspecting what test we need to do what is the limitation of those tests everything needs to be understood so what we say always sampling is very important pre-test counseling, post-test counseling all those things are very important so the other thing what I want is like now the why the genetic testing is important the importance what you ask so you have to understand when you do this testing or when you get the diagnosis so it will end the diagnostic battle or it will avoid the inappropriate costly traumatizing test because you are not able to diagnose you are doing the blood test urine test CT scan MRI and so many testing but you are not able to diagnose it so once you diagnose genetic condition you are going to end all these things so that way to understand is still very important then you will understand the cause what is the cause for the children problem so I always used to say earlier days the families which used to come to us in most of the time they used to come to us when they are tired and nobody is able to help them out so that time for them because everybody has told them that there is no treatment so that time when they come to us so they are again they are not expecting us treatment they are expecting us if somebody can help us why this happened to my child so that becomes very important part not the treatment because they have been bombarded there is no treatment so they also don't come to us so they want to know why this is happening so the testing will help in all those underlying cause we say prevention of complications so we tell that extra gene or extra chromosome we cannot remove it but we cannot take care of the complication associated with it if you see down syndrome children now they are almost I will say they are nearly now okay if you take care of the problem if you see 20 years 30 years back down syndrome they were intellectually so still without removing that extra chromosome we are able to treat or help the patient so that way and again supportive management so all those things we can do and the other thing what is important is like this I get only autism so you can't give them the speech therapy and all those things which will help them so then they can they can focus on the specialized support group or the clinical trial which is happening so we know there is nothing treatment is happening but there are a lot of clinical trials are happening so once we know the condition and unfortunately in genetic condition treatment or whatever clinical trial is happening it is not for the condition most of the time what is the etiology what is the defect what is the mutation on that specific mutation what is the clinical trial so they can be very focused to understand what is happening in the future another important thing is that they know what is the why this happened what is the recurrences and we can definitely prevent it for the next treatments so that is one of the importance of genetic tests without going into the direct treatment direct treatment means removing the cause okay so sir basically we can help the we can also help the pregnant mother for the next pregnancy that is the most important things definitely we can yeah right so sir coming into that sir what is gene therapy and so how can we help those people who have some certain defects in their gene or micro deletions whatever so so gene therapy is where you can alter the changes which is done so you alter those things so right now unfortunately India also gene therapy is very minimal in India the clinical trials and clinical research is very limited so that is another point so it is this is what I would like to happen but it is something which would happen in the future not near future but definitely in some times a lot of things are happening there are some treatment is happening for the spinal muscular atrophy there is a treatment is there and DMD some treatment is happening treatment and clinical trials are happening there are a lot of what you call enzyme replacement therapy for disorder but unfortunately that we have a lot of all this treatment very limited treatment what is there which is coming up they are very costly that is another sad side of the treatment so but yes government is looking into it and there are a lot of support group which is continuously talking to the government about like how to make government as a policy for management so government is looking into it but yes we have a long way to go helping in so many other ways also it can be done but there is no central government policy which is then drafting hopefully we can see something in the future and then it will help the people a lot so we have two questions and I think we can take up the questions so one question is by M Nubbin so it is at which point we can start treatment based on the genetic diagnosis when the symptoms are in the initial stage of autism so as I told you if you pick it up early it is better so if you are able to pick up those early signs of third month and all those things so early you give the speech therapy and that will help a lot yes so as early if you start like no from one year onwards speech therapy but if you are suspected there is a like no two sides of the coin sometimes you are doing overdoing like you are looking into too many things or like no you are missing it so you need to balance it out it is not that everybody child you look at it that is not following the things and then you straight away diagnose it as autism so you need to balance it out and then need to meet a speech pathologist and other team and try to understand there are child psychologists and there are pediatric specialist who can help you but yes early diagnosis, early intervention will definitely help the baby okay thank you sir I hope M. Navin has cleared his confusion and so another question is by Ansar Alam it is what is fetal RH blood group typing in NIPS test and what is the clinical implications okay now this is one of the indication as I told you NIPS is nothing that non-invasive prenatal screening so this way helping the RH incompatibility also but at least I have not got any request so far for this but this is one of the indications for doing NIPS also to see the RH incompatibility okay sir so sir having said everything sir what is the current scenario or that is the topic for us our discussion also today so what is the current scenario of medical genetics in India so current scenario of medical genetics is very exciting so we are a lot of autism on two side one in the genetic field we are able to diagnose lot of things I won't say everything but lot of things and lot of clinical trials are happening in India also so that is another plus point so it is not like we used to say only everything is happening abroad and all those things so clinical trial for SMA and DMD is happening in India and but yes we have a long way to go lot of research need to happen in the condition what we don't know all those things and then another aspect of genetic is moving into what we call is that precision medicine so moving into regular medicine okay so regular medicine may you know that whatever we give treatment it is tailored for everybody so some treatment to some individual some group of individual some it doesn't help and some shows side effect so precision medicine is going to look at the medical treatment and prevention therapies to characteristics of each patient improving their quality of life and health outcome so it takes into about individual differences of people, genes environment, lifestyles and provide clinician with a tool and knowledge and therapist best for the patient so it is something like right medicine to the right person at the right dosage at the right time so this is what we are moving into to me the cancer lot of things are happening in this direction okay so sir it is definitely very exciting time for us to be in because it's also things like precision medicine we hope it comes up very soon so sir we would also like to know from you sir what is the future of medical genetics like precision medicine when can we expect these things so this is what I am saying future is precision medicine so it is not I won't say it is future of medical genetics it is the future of medicine everything in the medicine slowly move into gene best diagnosis from the diagnosing of the common condition as a TB which we are now moving to RTPCR okay similarly everything if you know the common pandemic now our pandemic COVID RTPCR so from that everything you are looking at the gene level so that is going to move everything you are going to do look at the gene level not only Mendelian disorder the inherited disorder it is going to regular medicine also like another what is one more promising thing currently is cancer cancer there is a lot happening in the cancer and the genetics so that so you have to understand cancer not that all cancers are familial cancer most of the cancers as sporadic cancers there also you have a genetic test and looking at the fusion translocations and the single nucleotide polymorphism changes and all those things and there is a very small portion 5-10% of familial cancer if you need something like breast cancer what we call hereditary breast and ovarian cancer so that we look at the test from the blood ok so we are looking at the germline mutation that is running in the family and the other one what we were looking at is that is somatic mutation so that the organ what is got infected or the cancer so you are looking at the gene level in that tumor or the tissue so that so you have lot of things so I can say for cancer that in cancer all conditions I have some genetic etiology and but all cancers are not hereditary cancer or familial cancer right sir sir as you have said that about hereditary breast and ovarian cancer so sir when can we diagnose this and at what point can the woman present to you or what help can you give to the women at that particular time so you need to understand we are not looking at the diagnosis diagnosis done by the oncologist and surgeon by various thing so once the cancer is there not depending upon the history and the the site and all those things you may suspect a familial cancer so once the cancer is diagnosed then we want to look at the cancer whether it is familial so we need to important thing is we need to test the affected as I told you the familial cancels are very small 5 to 10 percent and if you break down to gene level it is further less so we need to have affected individual testing it is not that you test that I have a family history somebody passed away with breast cancer no we have to have the affected otherwise it will be detection rate or identification as a challenge so once we identify in the affected individual then there is two things one we can check at risk people the offering and the sibling of the person can be checked who are at risk then that can be tested the challenge in the cancer and genetic is that once you have the mutation doesn't mean that you are going to develop a cancer so inherently the best in ovarian cancer if a mother has got a mutation and if you check the daughter and daughter is harboring that mutation doesn't mean that she will definitely get a cancer it only means that her risk of developing cancer is further increased so they need to have proper surveillance okay that is for the at risk people now as I told you genetics and cancer is evolving very fast there is something which is happening for the patient also so once we know that it is a genetic mutation is there there are some different immunotherapies are available something called as a path inhibitor which is there so that can help the patient so it may help in the patient treatment also okay sir thank you so sir having said and done everything so can the common people in India go to go for genetic testing see as I told you genetic tests are costly but if you consider what are we how it is going to help and it is going to end a lot of other testing and the depth what we are going into it not only we are checking one gene so we are checking multiple genes together so that way if you ask me it is not that costly but if you ask me yes it is still costly and but unfortunately in this what happens the most all the equipments all the reagents are costly and it is not that it varies from the lab or all those things it is the equipment everything is costly but compared to what we are looking at it and another point always in all the cases that when you do a testing it is not testing for end users that test will help the entire family so if you put it across like that then it is not that costly yes sir and besides it would save a lot of other tests and save the money of the child a lot and sir we have another question from Dr. M.K. Neha sir the question is in case of amniotic fluid as sample what is relation between volume of amniotic fluid and trimester of pregnancy in case to check chromosomal abnormalities by PISH technique okay where is the volume of amniotic fluid and trimester in case I am not able to follow but amniotic amniosynthesis is usually done after 16 weeks okay so 16 week after that the amniosynthesis is done and it is the sample now what you want to test as I told you there are multiple tests are available you want to look at the carotiding if you have straight forward indications and if you are having some structural defect in the pregnancy then you would like to do an amniotic fluid or as I told you sometimes very rare not this thing if you have very peculiar finding in the fetus like now there is a rhabdomyoma rhabdomyoma is there so then you have to it is a very strong association of tuberous neurosis then you can look at the gene for the tuberous neurosis or when we have something like no we have to be very strongly suspect in gene level so depending on the condition suspicion or the history we can do the testing but amniosynthesis is done from the 16 week onwards as I told as I tell my all my clinicians investigation is not a problem you can investigation you can investigate till the baby is going to be delivered it is the irreversible action which you would like to take cannot be taken after 20 weeks so sometimes in India we are not like that people just want to know we are not at that level but yes sometimes we do in the cut rhinoceros also testing but as I told you counseling is very important we need to tell the patient why we are doing testing we are not doing testing to take irreversible action we are doing testing to understand the to for the mainly for reassurance if it is negative and if it is positive how to manage the pregnancy do we need to go aggressively or whether we can take it as natural course of action like that so it will mainly for this reason we have to so the counseling is important as I will be testing you can do anything right okay and so we have another question from m loving sir what is your point in creating what is the point in creating publicly available genetic database how far are we that is genetics in creating it or what needs to be done to do so and this point is with respect to Indian database now I there are different point I am not able to clear there are different things are there one is the making registry of the conditions so you have a registry so we have how many cases of spinal muscular and all those things and what are they treating and accordingly that can be used for various purpose for research and the thing and the other thing I think what I can understand I think databases is what we are looking at like when we do the NGS so we don't have we are looking at all this polymorphism so we don't know those polymorphism that is changing the gene variant whether it is a pathogenic or whether it is a benign or something which we call it as a V us variant of unknown significance so for that so those polymorphism so what we talk about usually those polymorphism whether certain polymorphism is there in our population certain will not be there in the Caucasian population so just that we need to have so we have a long way to go we have just in a created awareness about genetic condition and then the testing is though we have those testing but it is not that it is available in every second lab or second hospital okay so we need to do a lot of things in the investigation also and as you are the affordability making it cheaper so those things and then yeah obviously in the research and treatment a lot of things has to be done so we have still long way to go yeah in different areas there are so many things that need to be done and another interesting question is there what is what is the frequency of individuals having genomic imprinting in current practice genomic imprint that I don't think we have any career or any frequency for that but those are the defect can be present or it can happen due to imprinting defect something goes wrong during the fertilization time so that genomic imprinting can happen as far as I know we don't have any career or the frequency what we know about that that topic itself is very complex and I don't think so we have a frequency we have we have a lot of challenges okay we don't have not that much Indian statistics also so if you ask me about that career risk the number so number 4 we have for talysimia as I told you it varies again it's so much wide variations are there depending upon our geographical thing from 3 to 17% to 40% then spinal muscular atrophy which is another autosomal resistive condition which is very common that is again the career risk is somewhere in 1 in 71 so we have limited information not that much yes a lot of things are happening since last 5 years but we need to still compile all those things and things so last few years a lot of things are happening and we are able to identify a lot of things okay sir and lastly sir I would like to ask you sir what would be your advice to medical students who would like to pursue the future in genetics so what is the actual roadmap for it see as I told you one thing is there like people who are coming out of mbbs they should get more and more knowledge about genetics because going forward I had checked this robins in pathology it deals with a lot of genetics carotaping and fish study so it is increasing as I told you see there are two parts if you don't know how to read a report which is going to come now if you see a lot of whatsapp forwards are coming up for covid what is that viral load and all those things so in future that will happen to every condition so you need to understand the report so you need even if you are not in the regular if you are not in the genetic field so that way so they need to get more and more wherever they get the opportunity one definitely medical council of India or department which is not there but other people need to make genetics give more importance in the curriculum and obviously another part is the training we don't have that much training in medical genetics so that was formal training it is increasing but still need to be done more and if they want to pursue but again the students if they get opportunity chance to learn something in the genetics they should try to understand without understanding genetic future they will not be able to understand the they will be out of future genetics yes not a thing I am hoping that it is finally happening what I thought 20 years back now I am seeing something is happening in that direction right so with that we would like to come to the end of the show and so it was an honor to speaking to you it was really very informative and I hope that the audience was also enriched by your by your session thank you so much sir for taking out time for us and sir we have 1 or 2 questions if you want to take sir yeah means if it is ok means for you ok sir no no sir it's fine we have few questions sir one question is by doctor by Anzar Alam I think in he has written I think in complicated pregnancy go through for microarray for better diagnostic and also I did not get this question required about 25 what is this no sir I think he is he is answering depending upon the indication and the gestational age understanding the testing is you have to plan ok so another thing which I tell all my neonatologist like whenever you are suspecting any very sick child or anything just told the DNA ok so that we can try to understand what is the problem in the baby so that is one thing which we can say prenatal depending upon the indication there are lot of tests are available but whether as I told you as the technology is advanced there are lot of ambiguity is also there so you should be clear pregnancy time information has to be yes or no you cannot have ambiguity about your reports so that is one thing which you need to understand you cannot have variants so we do not know the patient should not get further stress as I told the counseling is very important testing people are not of awareness is happening and lot of labs are doing testing but they are missing the point of counseling pre-test counseling what are you doing this test for ok so not that when you get into trouble then you are looking for counseling counseling and so if you would like to like to address the elephant in the room that is the COVID-19 so if you could give in minute words a few words what is the relationship between COVID-19 and genetics and how has genetics played such a big role in the early detection and mapping of the COVID-19 genes etc so what I can tell you because of our advancement in genetics ok so we could sequence the this virus very quickly so that helped helped in two ways ok one we can understand the epidemiology how is it changing and this again will help in developing a vaccine so because we are able to sequence the virus so it helps in otherwise if you see the earlier days the development of vaccine and all those things took so much time now because of advancement yes so another thing we can sequence the gene also which can be if you know RTPCA the detection rate is around 70% when you sequence the gene detection rate is 99% but those tests are not for an epidemiological study and all those things it is good but not as a routine testing because that reporting is faster fast reporting is required and obviously cost is involved but yes because of the advancement of the thing we are able to understand the virus very quickly quickly so so that way it is helping in understanding virus and developing the vaccine ok ok sir so with that we would like to come to the end of this show it was excellent and it was very enriching for me as well and I hope it was very enriching for the audience to be able to hear you in person thank you so much sir for joining us and I would also like to thank team Kachar Chronicles for giving us the opportunity to speak to Dr. Mites thank you so much and I would like to thank the Kachar Chronicle and I hope as I told you that is what we are trying to create the awareness and North East is another thing which I like the hemoglobinopathy we are a lot worried about hemoglobinopathy North East is the highly enriched area of hemoglobinopathy HBE in combination with THAL and all those things so I would advise to get all pregnant ladies before pregnancy itself and if they are planning for pregnancy to get their hemoglobin HBE electrophoresis done or HBLC done and before all those things sometimes it can get into little complication also to understand the genetic cause of hemoglobinopathy so that is one thing which I would like the North East people to emphasize HBE, HBS and Thalesini yes sir, definitely we would also try to incorporate this in our daily routine practice also the cost factors also plays a little bit because as you see yes that is one thing but you have to understand that is what we are saying government to play a bigger role because in every test keep adding up the cost but yes look at the bigger picture also because having a child with hemoglobinopathy is a big challenge so compared to that this cost is very small very small, definitely okay sir, thank you so much for joining us thank you