DECIPHER The DECIPHER database of genomic variation collects clinical information about rare genomic variants and displays this information on the map with the aims of: • Increasing medical and scientific knowledge about rare genomic variants • Improving medical care and genetic advice for individuals/families with rare genetic disorders • Facilitating research into the study of genes that affect human development and health in order to improve diagnosis, management and therapy Further information about the DECIPHER database is available on the internet at: https://deciphergenomics.org

Research Ethics Assent Form (for incompetent adults over 18 yrs) Please print and keep the signed copy of this form in the patient record (do not send to DECIPHER)

I give permission on behalf of my son/daughter/ward

…………………………………………….…………………………………………………..………… (insert name of subject) born…………………………………………………………………………………………..……(insert date of birth of subject) to Dr/Prof……………………………………………………….……………………………….……… (insert name of clinician) of the …………………………………………………………...…………………………………………………….………………

………………………………………………………………….………………….…(insert Departmental address of clinician)

To share via the open DECIPHER interface:

• Anonymous clinical and genetic data regarding my son/daughter/ward to Yes / No

• Photographs of my son/daughter/ward (optional) Yes / No

I have read the explanatory leaflet ‘Welcome to the DECIPHER database - Information for families (version 7)’ Yes / No Please circle your choices above I understand that: o My name/ the name of my son/daughter/ward will not be published. o The material will be placed on DECIPHER’s world-wide website at https://deciphergenomics.org. The website will be seen and used by doctors (especially clinical geneticists) and scientists (especially genomic scientists and molecular biologists). o Linked anonymised summary data held in DECIPHER will be viewable via publicly accessible Ensembl genome browsers on the world-wide web and will thereby be accessible in other countries. DECIPHER data will be available via Ensembl genome browser and shared with other genomic databases and software dedicated to improved interpretation of genomic variation. This may include the sharing of the data with other approved research institutions, universities and companies worldwide. o The organisers of DECIPHER can accept no legal liability for the use or misuse of information. o Any photographs will be password protected and only available to clinicians/clinical scientists who are registered members of the DECIPHER Community

Signature of patient/parent/guardian……………………………..………………………………………………………......

Please state your relationship to the patient e.g. mother / father /guardian ………………………………………………….

Date of signature…………………………………………………………………………………………………………………….

Signature of clinician seeking assent………………………………………………………….………………………………….

Date of clinician’s signature……………………………………………………………………………………..………......

Thank you for taking the time to read and complete this form. Please return it to your geneticist. You may wish to retain a copy of this form for your records. The Wellcome Sanger Institute, , Hinxton, Cambs CB10 1SA, UK Tel: +44 (0)1223 834244 Fax: +44 (0)1223 494919 https://deciphergenomics.org; Cambridge University Dept of , Box 134 Addenbrookes Hospital, Cambridge CB2 2QQ, UK Tel: +44 (0)1223 216446 Fax; +44 (0)1223 217054

MREC Ref: 04/mre5/50 HF V6 09/2020