Innovations in Biotechnology and Medical Sciences

BRCA Testing

Note4Students

From UPSC perspective, the following things are important :

Prelims level: BRCA1Testing

Why in the News?

Angelina Jolie’s case highlighted hereditary breast and ovarian cancer (HBOC) after she underwent preventive surgeries due to a BRCA1 gene mutation.

What is BRCA Testing?

  • BRCA testing is a genetic test that looks for mutations in the BRCA1 and BRCA2 genes.
  • These genes normally help repair DNA, but when they are mutated, they increase a person’s risk of developing certain cancers, particularly breast and ovarian cancers.
  • BRCA testing identifies whether a person has inherited these mutations, which can lead to Hereditary Breast and Ovarian Cancer (HBOC) and other cancers.
  • The test is done using a blood or saliva sample, which is collected and sent to a laboratory for analysis.
  • In the lab, next-generation DNA sequencing or other genetic analysis methods are used to examine the BRCA1 and BRCA2 genes for harmful mutations.
  • The test results can show whether a person has inherited a harmful mutation in these genes.
    • If the result is positive, it means they are at a higher risk for developing certain cancers.

Issues with BRCA Testing

  • BRCA testing in India is expensive, costing between ₹15,000 to ₹30,000, which makes it unaffordable for many, particularly in lower-income populations.
  • Testing is often only offered to individuals with a family history of cancer, which misses about 50% of people who may have the mutations but no known family history.

Significance for India

  • Breast cancer is the most common cancer among women in India, accounting for 27% of all cancer cases.
  • Women with BRCA mutations have up to a 72% risk of developing breast cancer.
    • Early identification allows for preventive measures, such as regular screenings or surgeries, which can reduce cancer incidence by up to 100%.
  • By increasing access to population-wide BRCA testing, India can improve early detection and reduce the burden of cancer on its healthcare system.
    • Early identification can also lower treatment costs and improve outcomes.

PYQ:

[2019] ‘RNA interference (RNAi)’ technology has gained popularity in the last few years. Why?

  1. It is used in developing gene silencing therapies.
  2. It can be used in developing therapies for the treatment of cancer.
  3. It can be used to develop hormone replacement therapies.
  4. It can be used to produce crop plants that are resistant to viral pathogens.

Select the correct answer using the codes given below:

(a) 1, 2 and 4

(b) 2 and 3

(c) 1 and 3

(d) 1 and 4 only

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