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Genetic Testing of General Population can Prevent Breast and Ovarian Cancer by Millions

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Highlights :
  • Genetic Testing of women in the general population can be cost-effective in many countries
  • It can prevent cancer formation when the mutated genes detected early
  • Targets mutations of BRCA1 and BRCA2

Detecting mutated genes involved in breast and ovarian cancer in the general population has advantages, according to a global study. The cost-effectiveness and health impact of testing BRCA1 and BRCA2 mutated genes were compared between countries and with the current policies. It was found that general population testing is cost-efficient. Detecting mutations early also prevents cancer by millions in most countries.

What is the Aim of the Study?

Breast and ovarian cancer are common cancers diagnosed in women. The most well-known breast cancer or ovarian cancer-causing genes are BRCA1 and BRCA2. They come under the category of Hereditary Breast and Ovarian Cancer Syndrome (HBOC), meaning they are most commonly passed on from generation to generation in the family.


Genetic Testing of General Population can Prevent Breast and Ovarian Cancer by Millions

BRCA stands for breast cancer, and a mutation in BRCA1 or BRCA2 mostly results in breast cancer or ovarian cancer. Mainly 10-20% of the mutations result in ovarian cancers, and 6% result in breast cancers.

Current guidelines globally require women to undergo genetic testing only if they fulfill the 'high-risk' criteria. They need to either have a strong family history of breast or ovarian cancers or meet specific clinical criteria.However, half the population of BRCA carriers fails to meet the criteria, and so they are not generally tested. Thus, over 97% of BRCA carriers remain unidentified in the UK population.

The focus of the research study was to analyze the cost benefits for screening the entire population to identify mutated genes. If the mutated genes are identified early, options of further screening, surgery and medication could be provided to the patient to prevent cancer.

Which Universities Collaborated in the Study?

The study was led by Professor Ranjit Manchanda from Queen Mary University in London. It was supported by Dr. Rosa Legood from the London School of Hygiene and Tropical Medicine.

The research study was an international collaboration with universities such as:
  • Amsterdam UMC, Vrijie Universiteit Amsterdam - Netherlands
  • Universidade de Sao Paulo, Sao Paulo - Brazil
  • Peking University, Beijing - China
  • Indian Institute of Technology Kharagpur, Presidency University in Kolkata, Tata Medical Centre in Kolkata - India
  • University of Melbourne, Victoria - Australia
  • Newcastle University - UK
The study was supported by the NHS Innovation Accelerator Fellowship and the Eve Appeal a women's cancer charity. It was published in the journal Cancers.

What did the Study Focus On?

The research team mainly estimated the cost-effectiveness and health impact of BRCA testing in the general population. They compared it with the current standard of testing in countries divided into three categories based on income.
  • High income - UK, USA, Netherlands
  • Upper-middle income - China, Brazil
  • Low-middle income- India
Cost-Effectiveness was calculated from two perspectives- societal and a payer perspective.

The payer perspective includes all the medical costs like screening, genetic testing, prevention, and treatment incurred by health providers.

The societal perspective also considers other account costs like the impact when income is lost due to the inability to work.

What did the Study Find on Population-Based BRCA Testing?

  • Highly cost-effective from a payer perspective in high and upper-middle-income countries
  • Cost-saving from a societal perspective in high-income countries
  • Cost-effective from a societal perspective in upper-middle-income countries
To be cost-effective in lower-middle-income countries, the cost of BRCA testing needs to fall to USD 172

Population-based BRCA testing can prevent about:
  • 2,319-2,666 breast cancer cases per million
  • 327-449 ovarian cancer cases per million
  • 57,700 breast cancer and 9,700 ovarian cancer cases additionally in the UK
  • 269,00 breast cancer and 43,800 ovarian cancer cases additionally in the USA
  • 15,000 breast cancer and 2,500 ovarian cancer cases in the Netherlands
  • 1,050,300 breast cancer and 154,700 ovarian cancer cases in China
  • 156,300 breast cancer and 25,170 ovarian cancer cases in Brazil
  • 692,570 breast cancer and ovarian cancer cases in India


The study indicates the extent of cancer prevention when the general population is screened for BRCA genes. Strategies also need to be developed to enable maximum detection and cancer prevention. The testing would drastically stop cancer before it begins to develop if screened early. It also gives new hope for women and their loved ones that widespread testing could prevent breast and ovarian cancer drastically.

Reference : -
  1. Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems - (https://www.mdpi.com/2072-6694/12/7/1929/htm)

Source: Medindia

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