- Cancer and genes
It is estimated that 5-10% of cancers are due to an inherited genetic error. However, a much higher proportion of cancers (30-40%) may be due to moderately penetrant cancer susceptibility genes, coupled with exposures to carcinogens
- With the help of the newer diagnostic tools, 30-40% of the children with autism can be proven to have a genetic basis. Does not imply that the rest of the 60-70% is non-genetic in etiology. It means that, we haven't yet understood all about genes and autism.
Thalassemia and related hemoglobinopathies are the commonest single gene disorder globally, and in India. India has a burden of around 1,00,000 patients with thalassemia, likely an underestimated figure. Some measures can go a long way in changing the face of thalassemia in our country:
- 1. In order to facilitate timely prenatal diagnosis, routine screening for thalassemia should be offered to all pregnant women. Screening should ideally be initiated in the premarital & preconception period.
- 2. Setting up easily accessible and well equipped day care transfusion centres for these individuals and
- 3. Making available stem cell transplant at affordable prices
- 4. Making available affordable iron chelating agents
- Around 50 percent of the congenital cataracts have a genetic cause
- About 80 percent of the prelingual hearing loss is due to a genetic cause.
- 1 in 70 women have a lifetime risk of developing ovarian cancer. One fourth of these women have a hereditary predisposition to develop ovarian cancer
- American College of obstetrics and Gynaecologists (ACOG) recommends offering carrier screening to ALL women who are pregnant or considering pregnancy to screen for the following disorders: cystic fibrosis, hemoglobinopathies, spinal muscular atrophy
- 7 of every 100 live births in India have a serious congenital birth defect, which is directly or partially related to errors in the normal genetic expression.
- Extrapolating the global incidence of genetic diseases (7.94%) to the mammoth Indian population (1.2 billion) and its explosive birth rate, we have one baby with genetic disease being born every third minute in our country.
- The estimated Indian burden of people suffering from genetic disorders can be pegged to be somewhere around 17 lakh; a likely underestimation.
- In a recent collaborative genetic study with India, Dr Reich, an eminent geneticist from Harvard, concluded that the scope of genetic diseases in South Asia, including India, is probably more than anywhere else in the world.
- Genetic diseases are omnipresent in nature. They can present at any age, some presenting for the first time in the late adulthood. They can present to any medical specialist or super-specialist, sometimes evident in their nature; most of the times, disguised.
- 20% of the infertile males carry constitutional chromosomal abnormalities