Science and social media: How “oversharing” is helping human genetics

By Christina Vallianatos

We live in an age where oversharing is overabundant. From your best friend’s artsy food pictures (#boozybrunch), to your coworker live-Tweeting her labor experience (“C-section in 20 minutes!”), it seems like we know the intimate details of everyone’s lives, all the time.

But what if some of those TMI moments weren’t necessarily “too much information”? What if they’re actually helping to solve one of the biggest dilemmas in human genetics: the identification of disease-causing genes?

Hunting for disease-causing genes

Many human disorders have a genetic component, meaning mutations in one or more genes give rise to the disease. In other words, these genes play a crucial part in normal health and have serious consequences when they don’t work properly. Mendelian disorders arise when a single faulty gene leads to a disease. Think of cystic fibrosis, Huntington’s disease, or sickle cell anemia: these are all classified as Mendelian, because mutations in one specific gene causes each of these disorders. Figuring out which gene is going haywire is critical to not only understanding what’s broken in Mendelian diseases, but also how to fix it.

Every gene is encoded in our DNA, a 3 billion stretch of molecular letters that serves as our own personal genetic book. To read these genetic books, scientists use DNA sequencing technology. By reading each gene, DNA sequencing can identify which ones have a mutation, which in turn can help increase the number of disease-causing genes discovered. Yet even with advances in DNA sequencing, hunting for genes that cause Mendelian disorders is a challenge. One recent study estimated that 40% more disease-causing genes were identified per year from 2010-2014 than 2005-2009. While this is a substantial increase, it still leaves about half of all the Mendelian disorders we know about without an underlying genetic cause, and countless more disorders left completely unrecognized and undiagnosed.

Accurate diagnosis of a disease is invaluable for patients, their families, and their doctors, as it can determine treatment options, outcomes, and even help with family planning. But for some, even after DNA sequencing, a responsible gene can’t be found. Individuals with the same rare disorder may undergo different tests and evaluations, leading to very different clinical diagnoses. For others, sometimes a faulty gene is suspected, but there are not enough additional patients with the same symptoms and the same mutation to support causation. Without a causative gene or a substantial patient group to study, scientists and doctors struggle to understand the disease.

Enter: social media. Our modern world of online oversharing is stepping in where traditional science and research leave off. Social networking is now connecting patients and families around the world to help identify common symptoms, share genetic information, and build support for the discovery of disease-causing genes.

One in a million

“You’re one in a million!” Sweet words to hear from a friend or loved one, but when they come from your doctor, they can be absolutely terrifying. Roughly 30 million people in the U.S. alone are told just that – that they have a rare or unknown disorder. Some are “orphan” disorders for which no causative gene is known. Others are so rare that only a handful of people in the world have the same disorder. The rest show symptoms that can’t be easily categorized into any one particular disease. With no knowledge of what’s causing the disorder and few or no other patients to study, there are limited ways doctors and scientists can help.

Instead of being discouraged by their “one in a million” status, patients and their families are turning to the internet, sharing their stories of living with their particular condition and documenting their struggles both in and out of the clinic. Posts about daily activities, milestones achieved, doctor’s appointments, and test results aren’t News Feed clutter. Rather, these daily logs are precious information for families coping with similar conditions. Parents of children with rare disorders are posting blogs, creating social media pages, and teaming up with scientists to publish papers, hoping to find others like them and inspiring researchers to investigate their rare condition. In one case, two families of children with strikingly similar symptoms were able to connect via social media and learn that their children shared the same rare disorder. These families connected after just five days of being “live” online with a website, Facebook page, and Twitter account sharing photos, developmental milestones, and the overall diagnostic struggles of their young son. Most people can’t even get a doctor’s appointment within five days, let alone find a second person sharing your “one in a million” status.

In addition to these patient-driven approaches, organizations large and small are doing their part to leverage the power of the internet and connect families, researchers, and doctors. Programs like the National Organization for Rare Disorders offer an advocacy group for patients and families, empowering them to learn about their disorder, connect with others that might have a similar disease, and even get involved in raising awareness and making policy changes. National events like Rare Disease Day – which takes place on the rarest day of all, leap day, February 29th – are widely publicized across multiple disease communities.

Health professionals and research institutions are also learning how to use public sharing to redefine the medical genetics world. The University of Washington Center for Mendelian Genomics has created two online resources for the general public and human genetics professionals. On the MyGene2 website, families can learn more about the gene that might be causing their condition, search by symptoms to find others with the same condition, and share their stories and experiences. This information is linked to the Geno2MP site that can be accessed by all members of the genetics community, including physicians, genetic counselors, and researchers. Scientists and health professionals can then use this information to help them connect the dots between similar cases, speeding up the path to clinical discoveries. Sites like these allow individuals to play a first-hand role in making medical discoveries. By providing an easy, online tool to link genetics and clinical cases, these public sharing resources facilitate the identification of disease-causing genes on a broader, expanded scale than was previously possible.

Sharing is caring

There’s no doubt that social networking has become a powerful tool, but it’s not just for spreading celebrities’ selfies and igniting 140-character political rants. Open sharing has the power to advance science, and social networking has taken human genetics to new heights that scientists and doctors can’t reach alone.

It’s important for patients, doctors, and scientists alike to remember that sharing is caring. Those oversharing, TMI moments aren’t social media clutter; they are helping advance human genetics. You never know who will be reading the latest blog about your genetic condition, or the research article describing a gene’s newly identified function – every story could have a huge impact in someone else’s life.

About the author

Christina is a scientist who is most passionate about gene regulation and chromatin dynamics in the brain. She loves making science accessible and relatable to everyone. Christina earned her B.S. in Neuroscience and Modern Greek Studies from the University of Michigan. She is currently pursuing her PhD in Human Genetics at the University of Michigan, where her thesis research looks at how certain genes contribute to brain development and disorders such as autism and intellectual disability. When she’s not in lab dissecting brains or designing experiments, you can find her taking pictures with/of her favorite foods.

Read all posts by Christina here.