Rare Diseases – is social media changing health research?

FEBRUARY 29, 2016 12:02 AM| no comments
GeneticsResearchBlog

We all use social media in different ways – to share life events with friends and family, keep up to date with the latest industry and entertainment news, but for some, it’s much more that.

People and families affected by rare diseases have identified social media as a platform to create support networks with those experiencing the same challenges. Currently, 350 million people around the world are estimated to suffer from one of 6000 rare diseases.  Despite having many triggers and causes, 80% of these rare diseases can be attributed to our DNA.

In two case studies below, we explore how two research organizations have used social media in their health research to treat and better understand rare genetic diseases and what the shift in thinking means for the future of health research.

Genomic Medicine Institute, Geisinger Health System – Patients as active researchers

The genetic and genomic research at Genomic Medicine Institute‘s (GMI) is advancing the field of precision medicine- healthcare tailored to the specific needs of the individual. Through analyzing an individual’s entire DNA using whole genome sequencing, GMI can identify different genes that can contribute to different diseases and provide new treatments and diagnosies for unidentified disorders.

Patients play a central role in their research- social media such as Facebook, Twitter, and Pinterest has been integrated into their research along with other digital platforms such as their patient portal to create an online community where patients can share in-depth information health history.

Using this personal information, GMI cross analyses it with the patient’s genetic data to build a more complete picture of the person’s health. By enabling patients and their families to play an active role in the research it empowers them to be able to contribute to the treatment of their condition.

In this film we talk to Krista Williams, whose daughter has a rare genetic mutation (ALG mutation). We also hear form the Geisinger team on how whole genome sequencing is providing further answers to other rare diseases – watch here

University Medical Center Groningen (UMCG), Department of Genetics – Accelerating disease discovery

Using the DNA of over 165,000 people from their Biobank, UMCG Department of Genetics investigates complex genetic diseases. In a subspecialty, the department looks into clinical dysmorphology- birth defects in young people. They identified a patient support group on Facebook for a rare chromosome disorder -Chromosome 6, which was created by the families of children living with the rare condition.

By partnering with the support group, which became a part of the research study they were able to collect rich data that wasn’t available about the rare disorder. Within a couple of months, UMCG had collected more data about Chromosome 6 than what currently exists in international publications. Watch here to learn about their genetic research and how it is accelerating the diagnosis and treatment of rare genetic disorders.

The above stories are two examples of how social media has provided a platform for institutions and the general public to connect on a particular health issue. As people have become more self-aware of their own heath through advances of technology and access to information, they are becoming active researchers for their own health outcomes. Two way contribution to research can provide further context to the genomics data and in the case of UMCG, can accelerate the understanding various diseases that could have otherwise taken years.

Sequencing whole genomes allows health institutions to provide personalized medicine for individuals no matter what their health condition might be. Large scale initiatives are currently in progress looking at our DNA such as the Human Genome Project (USA), Precision Medicine Initiative (USA) and The 100,000 Genomes Project (UK). With the GenomeAsia 100K just announced this month, genomic research is scaling up globally, providing the opportunity to learn even more about different populations and disease triggers than ever before.

If the use and influence of social media can be harnessed in the same way as the two case studies above for larger research projects, it could have great benefits for the current genome projects and the future of personalized medicine and treatments.

As part of rare disease day, WebsEdge/Health is highlighting innovative research and clinical care in genetics from ASHG TV. WebsEdge/Health is our online channel, connecting issues and audiences in Health through the power of television. To find out more, follow us on twitter: @WebsEdge_Health or subscribe to our YouTube Channel.

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