Article produced in association with Jeen Health and Spital Clinic
Genetic testing for hereditary cancer risk in women has, for much of its clinical history, been available only through a referral pathway involving a GP, a clinical genetics team and a family history review meeting specific risk thresholds.
The arrival of direct-access private testing has changed this significantly.
Women who would not historically have qualified for NHS genetic testing under current criteria can now access clinically validated hereditary cancer genetic testing through private providers, often without waiting months for a specialist appointment.
Why Genetic Risk Matters for Women’s Cancer
Most breast and ovarian cancers arise sporadically, without a clear hereditary component. However, variants in genes including BRCA1, BRCA2, PALB2 and CHEK2 substantially increase the lifetime risk of these cancers in those who carry them.
According to Cancer Research UK data on inherited cancer genes, women with a BRCA1 pathogenic variant face a lifetime risk of breast cancer of approximately 70 to 80 percent, compared to around 12 percent in the general population.
Identifying these variants in advance of diagnosis allows for intensified surveillance, risk-reducing interventions and informed reproductive planning.
Who Is Considered High Risk
Current NHS criteria for referral to clinical genetics are set out in NICE CG164 on familial breast cancer. These thresholds are based on the number and degree of affected relatives and the types of cancer in the family history.
Many women who may carry a risk gene do not meet these referral thresholds, either because their family history is incomplete, because affected relatives were diagnosed in another country, or because small family sizes limit the visibility of inherited patterns.
Private genetic testing removes the eligibility barrier.
Any woman who wishes to understand her hereditary cancer risk can access testing independently of her family history, though the value of testing is greatest where there is a clinical indication.
The Genes Most Relevant to Women’s Cancer Risk
BRCA1 and BRCA2: the most well-known hereditary breast and ovarian cancer genes, with high penetrance
PALB2: a moderately high-risk gene for breast cancer, increasingly included in standard panels
CHEK2: associated with moderate increases in breast cancer risk
RAD51C and RAD51D: associated with elevated ovarian cancer risk
MLH1, MSH2, MSH6, PMS2: the Lynch syndrome genes, associated with increased risk of colorectal, endometrial and ovarian cancers
Testing for these genes in combination provides a comprehensive assessment of hereditary cancer risk across the most clinically significant pathways.
How Testing Works: At-Home and In-Clinic Options
At-home genetic testing for hereditary cancer risk is offered by companies including Jeen Health, which provides clinically validated panel testing using a saliva or cheek swab sample collected at home.
The laboratory analysis is carried out by accredited facilities and results are delivered digitally. This model provides privacy and convenience and is appropriate for women seeking initial risk assessment.
In-clinic testing, available through providers such as Spital Clinic, provides the advantage of a face-to-face consultation alongside the genetic result, allowing for immediate clinical context and onward referral where indicated.
For women who receive a positive finding, in-clinic consultation is particularly valuable.
Genetic Counselling: Before and After
Genetic counselling is an essential component of hereditary cancer testing.
Before testing, a counsellor can help clarify which genes are most relevant, what a positive or negative result would mean, and how findings might affect family members.
After testing, counselling provides the clinical context needed to interpret results accurately and plan next steps.
A positive result does not mean cancer is inevitable. It means risk is elevated and that risk-reduction strategies, such as enhanced surveillance, chemoprevention or preventive surgery, can be discussed with appropriate specialists.
A negative result substantially reduces risk but does not reduce it to zero, as not all hereditary risk genes are captured by any single panel.
What Happens After a Positive Result
Women who test positive for a clinically significant variant are typically referred to a specialist genetics clinic for a full family assessment.
Management options depend on the gene involved, the specific variant identified, and the individual’s personal and family history.
Options include enhanced surveillance through annual MRI and mammography, risk-reducing medications such as tamoxifen, or risk-reducing surgery.
For women considering pregnancy, findings also inform decisions about preimplantation genetic testing (PGT) and prenatal diagnosis.
Disclaimer: This article is produced for informational purposes only and does not constitute medical advice, diagnosis or treatment. Clinical guidance referenced reflects published NHS, NICE and RCOG standards as at March 2026. Individual circumstances vary; readers are advised to consult a qualified healthcare professional before acting on any information in this article. This piece was produced in association with Jeen Health and Spital Clinic, which provided background clinical information for editorial purposes. Hyperlinks to external sources are included for reference only and do not represent an endorsement of any product, service or organisation.
