Treating rare genetic diseases

Why is this work needed?

Some genetic diseases are extremely rare, some might only occur in a handful of people globally. Unsurprisingly, such rare conditions are often difficult to diagnose and treat effectively because a clinician might never have seen, or even heard of, such a disease before. To make matters more difficult, rare genetic diseases are also hard to study because researchers can’t find enough people to build up a useful amount of information.

What is happening?

DECIPHER is an international web-based platform that holds de-personalised genetic and clinical data from over 36,000 patients with rare genetic diseases from over 30 countries, including the UK.

DECIPHER enables finding matches between patients with similar genetic changes and similar clinical conditions. These matches allow the identification of new, previously unrecognised disorders. It enables clinical teams to assess if a particular genetic change is responsible for causing their patient’s condition and allows clinicians to share data to improve the accuracy of future genetic diagnoses, allowing better advice for patients and their families.

DECIPHER is also used by researchers to gain new insights into rare genetic diseases, resulting in the identification of dozens of new disorders and over 1,000 peer-reviewed publications, ultimately leading to improved patient treatment and management. Connecting clinicians, scientists and researchers has been instrumental in DECIPHER’s success.

What are the benefits?

Use of DECIPHER is now a standard part of clinical practice in diagnosing rare disease patients in many countries. DECIPHER has pioneered responsible, proportionate data sharing that is benefiting rare disease patients, with more rapid, accurate diagnoses, leading to improved management, counselling, access to support services and enabling research into developing new therapies.

What type of data is involved?

DECIPHER contains genetic variants, which may cause disease in patients, and patients’ relevant clinical data (phenotypes).

DECIPHER only holds de-personalised patient data, identifiable data remains at the hospital where the patient is being treated. Each patient record is given a DECIPHER number which is visible on the website. Each record also has another ID which is only visible to the hospital and enables the participating clinician to decrypt the code and link the data to an individual patient.

What is the legal basis for accessing the data?

Individual patients decide whether they want to allow their de-personalised data to be shared on the DECIPHER website. Only relevant information required for symptom comparison is stored in DECIPHER, which allows patients to benefit from data sharing, without being able to be identified from the data.

DECIPHER also enables sharing of de-personalised patient data between different genetic centres across the NHS, subject to approval from their Caldicott Guardians.

Who is funding and collaborating on this work?

DECIPHER is funded by Wellcome.

Where can I go for more information?

DECIPHER