Creating a Global Network
Unique supports families across the world living with a rare chromosome or gene disorder. The charity publish information guides, in a number of different languages to help families understand what it is like living with one of these disorders.
We sat down with CEO, Beverly Searle and Information Officer, Arti Patel ahead of their appearance at the Festival of Genomics London, where they will be participating in the session, ‘For patients, with patients: learning from patient experiences to maximise the benefit of clinical genomics’.
FLG: Tell me about Unique’s history and main mission?
BS: Unique’s mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness. We support families worldwide living with a rare chromosome or gene disorder, and the professionals supporting them.
Unique was founded in 1984 by Edna Knight MBE as a Trisomy 9 Support Group. Putting pen to paper, families with trisomy 9 were able to share their experiences and support each other. The group steadily expanded to include families of children with any rare chromosome disorder. In 1993, the group gained its charity status and adopted the Unique logo. With the help of my husband, Trevor, who worked as a database specialist, Unique launched its database to collect the lifetime histories of families living with a rare chromosome disorder. When our first website launched, we had just 1192 registered families. With the progress of genetic testing technology from karyotyping to array CGH analysis, and now next generation sequencing, we currently have over 16,000 member families, representing over 18,000 affected individuals in more than 100 countries worldwide.
FLG: What services do you offer?
AP: We understand what life is like with rare chromosome or single gene disorder, and the isolation and mixed emotions they can bring. To relieve the
isolation of our families, we have our listening ear telephone and email helplines. We connect families with each other on the basis of their rare chromosome or single gene disorder or symptoms. We have our social media pages and groups to enable families to speak to each other, wherever they may be in the world. Over the years we have developed a network of local contacts to help bring local families together for support and friendship.
Our information guides are medically verified and provide detailed and descriptive information about many of our rare chromosome and single gene disorders. They are family friendly and many are available in multiple languages.
For professionals such as clinicians, we can produce anonymised phenotypes on request using our confidential offline database. Where appropriate, we also connect researchers with patients for research projects.
FLG: You write information guides, what do these entail and where are they distributed?
AP: We know that families need more than just a list of medical problems that could be associated with a rare chromosome or single gene disorder. They need to know what daily life entails and what to expect when living with such a rare disorder. Unique has been collecting the lifetime histories from families living with specific chromosome disorders, and more recently single gene disorders, in our comprehensive offline database for over 30 years. Since 2003 we have spent many thousands of hours producing family-friendly, medically-verified, disorder-specific information guides. Once we have reached a critical mass of families with a specific disorder, we undertake a medical literature review and seek professional experts and researchers. We also request families to complete additional detailed surveys, which allows for the inclusion of helpful tips and stories from families living with the specific disorder. Once the guides are developed, they are medically verified. We have now produced over 200 disorder-specific information guides with many more in the pipeline. The final guides include phenotypic information about the disorder, as well information about education, social life, development, behaviours and ongoing research. New guides about chromosome and single gene disorders translated into many different languages are continually added. Unique is very grateful to the many geneticists, paediatricians and developmental specialists who have already helped us by writing or reading through and verifying the texts of the group’s guides on individual conditions. All information guides are available to download from our website free of charge.
FLG: What are some of your biggest challenges right now?
BS: Part of the new GDPR law, due to be implemented in May 2018, will strengthen rules around consent. This means, however, that rare disease patient support groups like Unique could be restricted by the Data Protection Bill in using health-related data from their patient registries for patient care and research. Patient-provided data on the natural histories of rare diseases, an invaluable resource for clinicians, the NHS and the international research community, may have to be destroyed or anonymised unless they fall under an exemption or unless the data is regularly re-consented by patients. In many cases re-consent will be impracticable where the data has been collected over many decades. This could hinder research, public health policy decisions and patient support.
FLG: With genetic disorders being felt all over the globe, how do you connect with as many people as possible?
AP: Unique supports families worldwide in more than 100 countries. Due to the rarity of the disorders at Unique, it’s important we’re able to connect with families and professionals anywhere in the world to help us understand the effects of rare chromosome and gene disorders on daily life. Thankfully this is now much easier with access to the internet and social media. We have a network of over 200 local contacts worldwide to connect local families with each other, who occasionally organise coffee mornings and other social events. This helps to support families locally and also raises awareness of Unique and the support we can provide to families and professionals.
FLG: Bridging the gap between families and professionals is essential in further understanding disorders, how does your organisation approach this?
AP: One of the aims of Unique is to bridge the gap between families and professionals to enable deeper understanding and efficient team work. We know that care works better for people living with rare chromosome and gene disorders when families and professionals are able to work together. We often link researchers who are interested in particular chromosome or gene disorders with families who are living with the disorder. Funding permitting, we regularly hold free regional family days and conferences for families. At these events we encourage professionals from different backgrounds, including clinical geneticists, molecular and cytogeneticists to attend the events and give family-friendly demonstrations about genetics. This also provides a unique opportunity for clinicians and families to interact in a non-clinical situation, and also for our lab technicians to meet the families whose samples they are testing.
FLG: In your opinion, what needs to be done to allow for the increased implementation of genomics into the clinic?
BS: Increased awareness and education of the benefits genomics can bring to care of patients and their families is vital. The implementation of genomics in clinical care and the possibility of securing a diagnosis through DNA sequencing is essential to supporting families living with the consequences of a rare chromosome or gene disorder. For many Unique families, receiving a genomic diagnosis means access to a prognosis and possibly to personalised medical care and support. We regularly deliver presentations to and hold discussions with policymakers, paediatricians, medical students and primary healthcare professionals to increase awareness of the importance and impact of receiving a genomic diagnosis and provide a patient perspective. Through the annual international rare chromosome and gene disorder awareness week we aim to raise the public’s and professionals’ awareness of Unique and the impact on families of rare chromosome and gene disorders.