How Easier Access to Genetic Testing Could Have Prevented a Cancer Diagnosis

If you have been diagnosed with breast cancer, timely access to genetic testing can play a crucial role in shaping future treatment and prevention options. Unfortunately, differences between NHS Trusts and eligibility criteria can sometimes mean that patients receive different levels of care depending on where they live.

A Sad Reality

More than a decade ago, a woman diagnosed with triple-negative breast cancer before the age of 50 would not have been eligible for genetic testing under the NHS criteria in her region. However, patients with the same diagnosis living elsewhere in the UK were already being routinely referred for testing.

Years later, she was diagnosed with ovarian cancer. Subsequent genetic testing revealed she carried a BRCA1 gene mutation, significantly increasing her lifetime risk of both breast and ovarian cancers.

Looking back, she believes that had genetic testing been available earlier, she would have chosen preventative surgery to remove her ovaries, potentially reducing her risk of developing ovarian cancer. She also would have considered additional preventative measures, including a double mastectomy, had they been recommended.

Understandably, the later diagnosis has had a profound emotional impact, affecting not only her health but also the way she thinks about her future, retirement, and everyday life.

Why BRCA Testing Matters

BRCA1 and BRCA2 are inherited gene mutations that substantially increase the risk of developing certain cancers, particularly breast and ovarian cancer. In men BRCA1 & 2 mutations are also linked with hereditary prostate cancer.

For individuals who carry these mutations, genetic testing can:

Identify inherited cancer risk.

Help guide treatment decisions.

Enable preventative surgery where appropriate.

Provide access to enhanced screening programmes.

Allow family members to consider their own genetic testing and risk management.

Early identification gives patients and healthcare teams more options to reduce cancer risk or detect cancers at an earlier, more treatable stage.

Differences in Access

Healthcare professionals and patient advisory groups have highlighted that access to genetic testing has not always been consistent across different regions. Changes to clinical guidelines have improved access over time, but historical differences meant that some eligible patients have missed opportunities for earlier testing.

Supporters continue to push for consistent implementation of national guidance so that patients can access the same standard of care regardless of where they live.

The Importance of Family Testing

Inherited BRCA mutations can affect multiple generations within a family. Once a mutation is identified, close relatives may also be offered genetic testing to determine whether they carry the same inherited risk.

Knowing this information can help family members make informed decisions about:

Regular cancer screening.

Preventative treatment options.

Lifestyle and health planning.

Discussions with genetic counselling services.

Understanding BRCA Gene Mutations

According to NHS guidance:

The average woman in the UK has approximately a 12.5% lifetime risk of breast cancer and around a 2% lifetime risk of ovarian cancer.

Women with a BRCA1 mutation face an estimated 72% lifetime risk of breast cancer and 44% lifetime risk of ovarian cancer.

Women with a BRCA2 mutation have an estimated 69% lifetime risk of breast cancer and 17% lifetime risk of ovarian cancer.

People with BRCA mutations are also more likely to develop these cancers at a younger age than the general population.

Current clinical guidance recommends additional surveillance for individuals with BRCA mutations, including regular MRI screening and mammography at appropriate ages.

Raising Awareness

This story highlights the importance of equal access to genetic testing and the impact early diagnosis can have on treatment and prevention. While healthcare policies have evolved significantly over recent years, increasing awareness of hereditary cancer risk remains essential.

Anyone with a personal or family history of breast, ovarian, prostate, or pancreatic cancer should speak with their GP or specialist to discuss whether referral for genetic counselling or BRCA testing may be appropriate.

Early knowledge can provide more choices, more preventative options, and, potentially, better long-term outcomes.

The FGIH offers an NHS approved, ISO15189:2022 accredited BRCA1 & BRCA2 test. There is no need to check your eligibility and takes only 10 working days. We email your report directly to you, with genetic counselling provided in the test price. Find out your BRCA status now!