Whole Genome Sequencing (WGS)

What is Whole Genome Sequencing?

Whole Genome Sequencing (WGS) is the most advanced genetic test available today. Unlike standard tests that check only specific genes (gene panels) or just the coding regions (Exome Sequencing), WGS sequences across the whole genome (though some highly repetitive regions can't be fully resolved). This includes both the genes themselves and the vast regions between them (non-coding DNA), which play a crucial role in regulating how your body works.

This "all-encompassing" view provides the most comprehensive possible snapshot of your biology. Jeen’s WGS service is available as a simple at-home test across the UK and EU, supported fully by our clinical team.

Who is WGS for?

WGS is especially useful for individuals with complex health questions or those who want the ultimate proactive screen. You should consider WGS if:

• You have unexplained symptoms: If you have a complex health issue where other tests have come up short, WGS can look for rare variants that standard panels miss.
• You want proactive screening: Healthy individuals and couples planning a family often use WGS to screen for Rare Genetic Conditions or hidden risks before they become issues.
• You are seeking a diagnosis: Doctors often suggest WGS when symptoms point to a genetic cause that simpler tests (like Single Gene Testing) could not identify.

Our team of Genetic Counsellors can advise if WGS is the right investment for your health journey.

What does WGS test for?

This test examines every gene and non-gene region in your DNA. It detects a wide range of genetic changes, from small mutations in single letters of DNA to larger structural rearrangements.

Because WGS covers the whole genome, it is uniquely capable of finding:

• Rare or unexpected variants located outside of standard testing regions.
• Structural variants (large chunks of DNA that are swapped or missing).
• Inherited risks for diseases such as Cancer, heart conditions, and neurological disorders.

Studies by Genomics England describe WGS as the "most comprehensive genomic test" available, noting its ability to find diagnoses that other methods miss.

Why does WGS matter?

Knowing your entire genetic code can help answer critical health questions.

1. For Diagnosis: For patients with rare or confusing symptoms, WGS is often the "final piece of the puzzle" that provides a confirmed diagnosis.
2. For Prevention: For healthy people, WGS can reveal predispositions that allow for early monitoring or lifestyle changes.
3. For Treatment: Identifying specific gene variants can guide doctors toward precision medications or clinical trials.

Jeen combines this massive amount of data with medical expertise. Our geneticists filter through the noise to highlight only the clinically relevant results for you. By offering WGS alongside our targeted tests (like Carrier Screening), we give you the clearest possible picture of your genetics.

Limitations of Whole Genome Sequencing (WGS)

WGS generates massive amounts of data. It is more expensive and takes significantly longer (4–8 weeks) to analyse than a standard panel. Because WGS reads everything, it often finds genetic changes that scientists haven't seen before. We may not know if these are harmless or harmful, which can sometimes lead to uncertainty rather than clarity.

It also does not detect every type of genetic change; certain complex repetitive DNA sequences or "epigenetic" changes (switches that turn genes on/off) are still difficult for current technology to read.

What is involved in the testing process?

We have made the process as simple as possible:

1. Kit and sample: Order the Jeen WGS kit from our Tests Page. We mail you an easy sample kit (usually a saliva tube).
2. Sample return: Collect your sample at home and send it back in the prepaid packaging.
3. Sequencing: Our UK-accredited lab extracts your DNA and sequences the whole genome. We use powerful machines that process your DNA in high detail (high depth).
4. Analysis: Bioinformaticians compare your sequence to a reference genome to find differences. We analyse these variants to see if they match known health-related changes.
5. Report & Counselling: You receive a detailed report and a consultation with one of our Genetic Counsellors. They explain your findings, discuss risks, and help plan next steps.

Note: WGS results typically take longer than smaller tests (around 4–6 weeks) due to the immense volume of data being processed.

Next steps after your results

Once you have your results, your counsellor will review them with you in a one-on-one session.

• If a variant is found: We will explain its significance (e.g., a cancer risk gene or carrier status) and guide you on follow-up steps, such as specialist referrals or increased surveillance.
• If no pathogenic variants are found: We will discuss what that means for your peace of mind and provide general health advice.

You will have the opportunity to ask questions or request additional support at any time. Jeen’s WGS service empowers you with the most complete genetic snapshot possible, backed by the latest science.