"There is now a new technique called as preimplantation genetic diagnosis. Essentially the major component of this is through IVF or invitro fertilization. What is done in this technique is the father’s sperm and the mother's eggs are fertilized in vitro. The embryos are prepared outside the body and these embryos are screened for the genetic errors, which has been already detected or diagnosed in a previous member. Out of these screened embryos, only the healthy unaffected embryos are selected for implantation into the mother’s womb such that the family knows right since day 1 that the baby which is growing is a healthy one. The advantages of preimplantation genetic diagnosis is that the families have a clear idea about the status of their child right since day 1. In prenatal diagnosis the couples get this clarity only by 14 to 20 weeks after the results of the prenatal tests are available"

"According to the march of times there are almost 7 babies per 100 newborns who have some birth defect or the other. Out of these birth defects, congenital heart disease, neural tube disorders, neural tube defects, and the cleft lip and the cleft palate are amongst the commonest of birth defects. While the etiology of these defects is manifold ranging from antenatal infection, teratogens, there are a certain percentage of these birth defects that can be cased due to an underlying genetic error, picking up these genetic errors in time has just a benefit not only for the child, because he gets a more comprehensive approach to his condition. But also to the family who would want to know whether their next baby can have the same condition or not"

"Breast and ovarian cancers are common gynecological cancers seen in the urban population. The etiology of breast cancers is vast ranging from cancers and environmental factors, hormonal, and genetic does form an important vector to these group of cancers right from the more common and the well known as BRACA 1 and BRACA 2 to the other more cryptic genes. The spectrum of genes associated with hereditary breast and ovarian cancer is expanding by the day. Almost 5 to 10% of the breast cancers have a hereditary component attached to it while almost 25% of the ovarian cancers have a strong genetic component associated, which means if there is a family history of ovarian cancer or if there are multiple first or second degree relatives affected with breast cancer especially if the cancer is premenopausal in age, if there are multiple cancers on one side of the family, these are all red flags for which one should consider getting testing for a hereditary cancer susceptibility. What is the advantage? Why should we pick up these disorders? Having a genetic diagnosis for the breast and ovarian cancer has implication not just for the patients, but even for the unaffected family members. There is now data which says that the therapy that is targeted for ovarian cancer can be modulated depending on the type of genetic error that you are carrying and in the unaffected members by doing a timely surveillance, we can pick up the cancer at an earlier stage and thereafter offer them a risk reduction options and a longer disease free period"

"We are often encountered with clinical situation in which the couple come to us enquiring about the risk of recurrence of a genetic disorder in their child. It could be a history of mental retardation, muscular dystrophy, autism or any other disease in their previous child or some other family relative. In such a scenario with the advances in medicine and genetics one can provide these couples a reliable answer about the risk of having an affected child. Infact there is now an advanced technique called as preimplantation genetic diagnosis. Through this technique if we now where is the genetic error, we can carry out the procedure through IVF and the lady can implant only the healthy embryos in the womb so that right from day 1, the couple is reassured that the baby which is growing within them is a healthy unaffected child. So that is the magic of genetics"

"With the advances in clinical genetics there are many exciting vistas that are opening up. Disorders which were not treatable are now coming into the areana of treatable genetic disorders. The list of inborn errors of metabolism which can have treatment, the number has gone up from 40 to 80’s to a 100 now. There are conditions called as thalassemia which are amenable to bone marrow transplant. A lot of metabolic conditions like Crabbe disease or storage disorder like Gaucher, mucopolysaccharidosis, are now amenable to special therapy in the form of enzyme replacement therapy. This is a treatment in which the defective enzyme, which is causing all these symptoms are administered exogenously, and the symptoms abate. While there is good news that there is a lot of new treatment models being available in the last few years, but overall there is many condition for which we do not have any cure, for example, Downs Syndrome which is caused by 3 copies of Chromosome 21, there is no treatment for Downs Syndrome, but yes, we can support the various spectrums which is associated with Downs syndrome. If the child has got refractive errors, you correct that, if the child has hearing issues, you give him aids, all these can go a long way in improving the child’s quality of life overall and reducing the morbidity of the disease. While treatment options are available for some, for some it is only about the routine surveillance and improving the quality of life"