Aggregating patient-provided data to inform natural history: The Unique experience

Beverly Searle PhD

CEO, Unique

2015 ClinGen/DECIPHER Meeting

www.rarechromo.org

Unique’s Mission

“Together, we will beat the isolation of rare cytogenetic and genomic disorders”

For over 30 years, Unique has been:

Informing, supporting, matchmaking, data sharing and networking with patients and families affected by rare cytogenetic and genomic disorders associated with ID/DD and with the professionals working with them

Relieving the isolation of those affected by such rare disorders

Serving as an umbrella organisation for all such rare disorders

Promoting and participating in research

Raising awareness

www.rarechromo.org

Unique Membership Worldwide

12,500+ member families representing 15,000+ individuals with a rare cytogenetic or genomic disorder in 100 countries at May 2015

www.rarechromo.org

Unique’s Database Families sharing data for nearly 20 years!

Unique’s database was launched in 1996 – documenting detailed lifetime clinical, developmental, cognitive, behavioural, educational & social information and

identifying clusters of similar genotypes. Families worldwide self-refer.

Why did Unique create the database in 1996? • At that time, little professional documentation of genotype/phenotype

correlations/natural histories of rare chromosome disorders – mainly papers published about clinical symptoms of affected individuals at birth or in early childhood, often with no long-term follow-up

• Families’ desire for information about the lifetime consequences of their rare chromosome disorders and to find others with a similar disorder

• Families’ desire for better therapies, treatments, care management pathways • No systematic, centralised global collection of data on multiple cases with similar

genotypes • Families’ desire to offer their personal stories and data and to find and participate

in research studies

www.rarechromo.org

Collecting Families’ Data Types of data we collect • Genotype – original genetics lab reports • Phenotype – family-provided clinical, developmental, behavioural, educational, social data supported by professional reports

How we collect data • Database forms to families according to their individual preferences – electronic or hard copy, emails, telephone interviews • Further in-depth questionnaires to cohorts with similar genotypes • Rolling programme of data updates •The personal touch! •Consent – opt in registration with opt out option for personal data sharing and/or anonymised phenotypic data sharing www.rarechromo.org

How we make use of the data

• Matchmaking – genotype, phenotype, geography, treatments, therapies, daily experiences etc

• Anonymised phenotypes for professionals • Encouraging recruitment to research programmes &

professional databases like Decipher and ClinGen • Producing information guides to specific cytogenetic

and genomic disorders

www.rarechromo.org

Keeping families engaged over a lifetime!

• Initial registration and data collection is not enough • No fees • Reciprocation • Services – supportive 1:1 telephone and email

helpline; information resources to help practical caring including magazines, information guides, e-news alerts; website; social media resources (e.g. 32 different Facebook pages for member families to communicate in private); conferences; disorder-specific study weekends; regional family social days

• Representing the views of families at national and international level

www.rarechromo.org

www.rarechromo.org

Some now available in French, German, Spanish, Dutch, Polish, Romanian, Arabic, Greek, Portuguese and Italian

Over 160 family-friendly guides to a wide variety of rare chromosome disorders/CNVs

Information Leaflets to Novel Gene Syndromes

www.rarechromo.org

•Developed in collaboration with the DDD project and expert clinical geneticists generously donating their time

•Free to download from Unique’s website in addition to comprehensive guides to 160+ other rare cytogenetic and genomic disorders.

•Several more leaflets are in production or planned including SYNGAP1, KAT6B, SCN2A, KCNQ2, MLL (KMT2A), STXBP1, DYRK1A and CASK

•Will expand into longer guides as more families register with Unique and share detailed information

Unique’s data challenges

• Exploring ways to make registration, data collection and updating easier for families while maintaining data quality and quantity in the long-term

• Dealing with the burgeoning numbers of families wanting to register - the “genomic tsunami” effect!

• Demonstrating to families that disorder-specific Facebook groups are not enough on their own and encouraging them to be registered on global database(s) – the paradox of fragmentation and isolation due to Facebook

• Improving access to anonymised data for professionals • Balancing the sometimes divergent data needs of families and

professionals

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Unique’s View of the Challenges of Data Sharing Between Professionals

• Protecting families’ privacy and security • Ensuring de-identification of data - anonymity in aggregated data • Respecting the views and choices of individuals whose data are shared

- no pressure to share for “the common good” • Creating a culture of responsible data sharing and use • Clear, understandable, properly informed consent processes are

essential, whether opt in or opt out, and should be consistent with voluntary choice – keep terminology simple to aid clarity and understanding

• Implications for future research findings – to reveal or not to reveal retrospectively to individuals?

• Raw data vs interpreted data – patients’ right to hold their own data?

www.rarechromo.org

Unique’s View of the Challenges of Data Sharing Between Professionals

• Sensible balance needed between the rights of the individual and public benefit

• Expectation management – be explicit about what families will or will not get out of data sharing and research and do not over-promise outcomes

• Ensure data are maintained long-term • Reporting back an overview of the progress of a project is essential, even

if there might not be direct benefits to individuals of data sharing or research. DDD’s regular family newsletter was hugely well-received and appreciated by families

• Maintaining the trust of families and patients is critical

www.rarechromo.org

www.rarechromo.org

Networking, Support, Matchmaking, Data Sharing and Information for Families and Professionals

www.rarechromo.org Tel: +44 (0)1883 723356 info@rarechromo.org