What happens to your genome after the test

Why a genome can be read again

Your sequence does not change, and what is known about it does. UK guidance points out that in genomics the data stays the same while its interpretation may change, so a variant once thought uncertain may later be confirmed as harmful, or found to be harmless [1].

Reanalysis can find answers that were missed. In a review of 29 studies of people with suspected inherited disorders, reanalysing existing sequencing data produced a new diagnosis in about 10% of cases, mostly because the published evidence had moved on [2].

Uncertain results are the most likely to change. In one laboratory’s data, 7.7% of unique variants of uncertain significance were reclassified, and 91.2% of those were downgraded to benign or likely benign, with a median of 1.17 years before the amended report [3].

Will anyone tell you if something changes

Only where a system exists to do it. UK guidance warns against implying that recontact will happen automatically without a reliable mechanism, and encourages people with uncertain findings to ask for an updated interpretation from time to time [1].

Before you test, ask whether reanalysis is included and how often it happens, whether it is a full re-read or a check of known findings, and how you will hear about a change.

How your data and sample are protected

Genetic data has a legal definition. UK GDPR describes it as personal data about inherited or acquired genetic characteristics that gives unique information about your physiology or health, usually from the analysis of a biological sample [4]. It is special category data, which the law singles out as more sensitive and gives extra protection [5].

A sample becomes personal data once it is analysed and the result can be linked to you [5]. In clinical genetics, DNA samples are routinely stored, unlike most samples that are discarded after a test, and they may later help interpret results for relatives [1].

What insurers can ask

The UK Code on Genetic Testing and Insurance, agreed between the government and the insurance industry, sets the limits [6]. Insurers will not require or pressure you to have a genetic test, and they ask for a predictive result only for conditions approved under the code and above set amounts of cover [6].

Those amounts are £500,000 for life cover and £300,000 for critical illness cover, with income protection set at £30,000 a year [6]. The only approved test today is for Huntington’s disease, for life cover above £500,000 [6].

Insurers will not ask for a predictive result taken after your cover started, or for a relative’s result, and a result obtained only through research is also exempt [6]. A diagnostic test, which confirms a condition suggested by symptoms or other tests, is treated like other medical information [6].

What to check before you test

Ask these of any provider, including us, and keep the answers with your report.

• Who can see your raw data and your report, by name or by role.
• Whether your data or sample will ever be used for research, and whether that needs your written consent.
• Whether you can download your raw data, and in what format.
• Whether your data and sample are deleted when you ask, and how quickly.
• Whether reanalysis is included, how often, and how you will hear of a change.
• Where your data is stored, and whether it leaves the UK.

Limits worth knowing

Reanalysis can only re-read what the original test captured. A gene panel holds far less to re-read than a whole genome, and some kinds of variant are hard to detect with any method. A reclassified result can also raise new questions, so it should come with a conversation as well as a letter.

If a result has already worried you, a doctor can read it with you now, without waiting for a scheduled reanalysis.

How The Wellness can help

At The Wellness, the people who see your data are you, the genetic counsellor and your doctor. Your raw data is yours to download at any time and is deleted the day you ask, and it is never sold or shared for research without your written consent.

On The Sentinel, your report is updated if a finding is reclassified. On The Legacy, your genome is read again in full within two years and checked against new research every year, and we contact you if anything changes for you. Every option begins with a free call with one of our doctors.