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Genetic testing

Whole genome sequencing access

How whole genome sequencing is accessed in the UK - NHS pathways, research programmes and private options compared.

Key facts

At a glance

  • The test: sequencing essentially all your DNA - coding and non-coding - the most comprehensive single genetic test available.

  • NHS route: the Genomic Medicine Service offers WGS for defined indications including rare disease and certain cancers, via specialist referral.

  • Private route: accredited laboratories offer WGS with geneticist interpretation - quality varies, and interpretation is what you are really buying.

  • Counselling: consent conversations cover incidental findings, data storage and family implications before sequencing begins.

  • Insurance note: the UK code means predictive results are not requested by insurers for standard cover; disclosure rules are covered in counselling.

The full picture

What this test involves, and how to get it

Whole genome sequencing reads essentially all of your DNA, coding and non-coding alike, making it the most complete single genetic investigation available - able to detect the variants an exome sees plus structural changes and deeper non-coding variation. The UK is unusually well provided: the NHS Genomic Medicine Service, built on the 100,000 Genomes Project, commissions WGS for specified rare disease presentations and certain cancers, ordered through clinical genetics and specialist teams with counselling and formal interpretation included. The constraint is eligibility - defined indications, specialist referral - and turnaround, which serves clinical need rather than curiosity. Research programmes such as Our Future Health offer a different proposition again: participation and limited feedback, not a personal diagnostic service.

Private WGS spans a wide quality range, and the honest guidance is that sequencing is now the cheap part - interpretation is what distinguishes a clinical-grade service from an impressive-sounding data dump. Worth insisting on: an accredited laboratory, consultant geneticist involvement, pre-test counselling that agrees which categories of finding will be reported (diagnostic targets, secondary findings, carrier status, pharmacogenomics), and a written clinical report rather than raw files alone. Costs vary substantially and are confirmed before booking; timelines run weeks. For most people with a specific clinical question, a targeted panel or exome remains the better-value first step - a genetics consultation, NHS or private, is the right place to decide which. Predictive findings sit under the UK insurance code, which the counselling will set out plainly.

A quiet reminder

This guide is for information, not medical advice.

Your own clinician knows your history and can tell you which parts apply to you. Next review of this page: 2027-09-27.

Frequently asked

Common questions about Whole genome sequencing access.

Quick, plain-English answers to what people ask us most.

  • What is Whole genome sequencing access?

    Whole genome sequencing access is a genetic test that looks at specific DNA information relevant to a particular condition, inherited risk, or family planning question. It is usually considered when there is a personal or family history that makes this information clinically relevant. Genetic counselling is often recommended alongside testing to help you understand what a result would mean.

  • Why would someone need this test?

    This type of testing is typically used to assess carrier status, inherited risk, or a specific genetic cause for a condition already suspected on clinical grounds. It may be recommended by a GP, specialist, or fertility clinic depending on the context. The decision to test is usually made together with a healthcare professional, given the personal implications involved.

  • Do I need to prepare for this test?

    Most genetic tests only require a simple blood sample or saliva swab, with no special preparation such as fasting needed. What matters more is having a pre-test conversation, often with a genetic counsellor, about what the possible results could mean for you and your family. This helps you make an informed decision before proceeding.

  • What happens during the test?

    A blood sample or saliva swab is taken and sent to a specialist genetics laboratory for analysis. This part of the process is quick and generally painless. The laboratory work itself, including sequencing and interpretation, is what takes the most time.

  • How long do results take?

    Genetic test results generally take longer than routine blood tests, often several weeks, because of the specialised laboratory analysis and interpretation involved. Your clinician or genetic counsellor will give you a realistic timeframe when the test is arranged. Results are usually discussed with you in a dedicated follow-up appointment rather than by letter alone.

  • What do the results mean, and what happens next?

    Results are usually explained by a geneticist or genetic counsellor, who can put the finding into context and discuss any implications for you and, where relevant, your family members. Next steps vary widely depending on the specific result and may include further testing, specialist referral, or reproductive planning advice. It is normal to need time and support to process this kind of information.

  • Is genetic testing available privately, and how much does it cost?

    Yes, many genetic tests can be arranged privately, often with shorter waits than some NHS genetics pathways depending on the specific test and local services. Cost varies by provider and confirmed before booking. Private genetic counselling is usually included or available alongside testing to support you in understanding the result.

  • Is this type of test accurate?

    Modern genetic testing carried out in accredited laboratories is highly accurate for detecting the specific changes it is designed to look for. However, genetics is complex, and a result is not always straightforward to interpret in isolation - context from a genetic counsellor or specialist is important. Very rarely, further confirmatory testing may be recommended.

  • How do I book this test privately?

    You can usually arrange this through a private genetics clinic or fertility service, either with a referral or via self-referral depending on the provider. Pre-test counselling is typically arranged as part of the process.