Clinical presentation and final diagnosis in genetic disorders is a challenge for Indian doctors. This makes early detection of this major disorder a leading cause of childhood morbidity and mortality, according to Dr Sheetal Sharda, Clinical Geneticist, Medgenome Labs.

The Prenatal Diagnosis and Preimplantation Diagnostic Techniques Act of India has no clear recommendations on  termination of pregnancies on  foetuses with birth defects or genetic disorders. Many families opt for termination after 20 weeks because of late diagnosis, but the Medical Termination Act (1971) does not allow termination after 20 weeks of pregnancy. This is a  major challenge for medical fraternity. Policy makers should  propose ethical and legal guidelines on the same, said Dr. Sharda.

India not only lacks the adequate knowledge about genetic disorders but is also bogged down by a paucity of testing facilities within easy reach limits testing, she added.

Parents access several specialists for diagnosis, prognosis and treatment. There are many genetic tests available but not affordable, said Dr. Sharda in her discussion on challenges in paediatric genetic disorders and prenatal genetic counselling with Pharmabiz.

There are over 15,000 recognized genetic disorders and more new ones being discovered with  advancement in genetic sciences. The incidence is  estimated to be 2-4 percent of all births. This number rises to 7 percent at one year of age, as some of the genetic diseases may present later. Nearly 5 percent of teenagers and youth under 25 years develop serious disease attributable to a genetic component. It occurs due to genetic mutations or chromosomal abnormalities. Their effects vary in severity, and can present at any age. Some of them present even before birth, she said,

Majority of the genetic disorders are still untreatable with only symptomatic management available like for instance Thalassemia. Most patients are dependent on monthly blood transfusion and chelation therapy. Bone marrow and stem cell transplant facilities are available in few centres. Similarly Factor VIII replacement therapy is difficult to access. Enzyme replacement therapy is available for some lysosomal disorders but is being patented  and  the imported orphan drugs are  expensive.

Due to limitations in diagnosis, lack of testing facilities and treatment options, prevention in the form of prenatal genetic testing is viewed as the best  good option. The couple is offered prenatal diagnosis in first or second trimester and in case the fetus is found to be affected, further reproductive options can be taken with informed consent. High resolution of ultrasonography reports enable prenatal diagnosis of major and minor malformations. The developments in the field of fetal therapy are also remarkable. This has benefited many families in India, said Dr. Sharda.