Patient Involvement in Genomic Research: Unpacking the “Genetics Unzipped” Podcast Episode S3.08


While genomic research presents the unique opportunity of combating diseases and gene malfunctions at the source, the practice has been incredibly controversial. Some people worry about the ethics of gene therapy, while others worry about the protection of information. However, the field is still burgeoning, and researchers have the opportunity to not only show the importance of this therapy, but how they can protect patients.

In Episode S3.08 of the “Genetics Unzipped” podcast, Dr. Kat Arney sits down with a host of interviewees to discuss the importance of performing genomic research with, as opposed to just on, patients.

The Podcast

Guest 1: Fiona Copeland

Two of Fiona’s sons have primary ciliary dyskinesia that was not diagnosed until later in life. The earlier that PCD is diagnosed, the earlier a patient can receive care, and the less lung damage will occur. Primary ciliary dyskinesia is a genetic disorder that can impact the lungs and other internal organs. Cilia are small, hair-like cell structures. In the lungs, they help clear out mucus, fluid, and bacteria.

But patients with PCD do not have normally functioning cilia, leading to respiratory infections, frequent ear infections, fluid in the brain, and respiratory issues. Around 50% of patients with PCD also have situs inversus totalis in which the internal organs are reversed from their normal positions, and 12% of patients have situs ambiguus in which the heart, spleen, liver, or intestines are either abnormally shaped, abnormally located, multiplied, or missing. It is caused from gene mutations in DNAI1 and DNAH5. Learn more about PCD here. 

Patient Advocacy

Fiona also acts as a genomic research patient advocate. She attends meetings at the Royal Brompton Hospital and reviews research applications for clinical trials. She teaches clinicians how to appropriately recruit and interact with patients. For example, in one research application, she noted that researchers were going to perform muscle biopsies on children just for extra data. She explained that many parents will only partake in research if it provides value and does well for the patient; in this case, the researchers ended up dropping that idea.

Additional concepts highlighted in Fiona’s segment include:

  •  The importance of patient-doctor communication, particularly in regards to patient impact
  • Not forgetting the protection of human lives as DNA and data analysis tools become cheaper
  • Online research training through the National Institute of Health Research
  • Community support for patients with rare diseases and their families
  • Patient involvement in a supportive, not exploitative, way

Guest 2: Patrick Short, CEO of Sano Genetics

When Patrick first started Sano Genetics, he had one goal: connect patients to research and vice versa. But he found that this was more difficult than he thought. So his team started to build software that would allow patients and researchers in genomic research (such as sequencing) to better connect. This software would not only keep patients in the loop over extended periods of time, but would also allow patients to add and update their data or list their research priorities.

One of the best ways of connecting to patients, and getting them to participate in genomic research, is to ask questions around prior research experiences or improving communication. Ultimately, commercial enterprises (like biotech companies) feel quite isolated from patients. But by getting feedback and adopting a more patient-centric outlook, researchers can build stronger connections with patients.

Additionally, Patrick notes that one change Sano Genetics has been doing is taking the time to explain the impact of data to the research process. How are people really contributing to research? What drugs are being discovered? This builds trust between patients and providers. But it also shows patients that all of this research is for them.

Guest 3: Shelley Simmonds

When Shelley’s son was six months old, she noticed that he had extreme muscle weakness. After some testing, he was initially diagnosed with Duchenne muscular dystrophy, a rare genetic disorder. But Shelley wasn’t so sure. Two or three years later, her son wasn’t displaying textbook signs of DMD, a view that her doctor agreed with.

So Shelley got involved in the 100,000 Genomes Project. It took nearly three years of genomic testing to come back with…well, nothing. But as genomic testing improves, and additional sequencing is done on the six billion genomic letters, she hopes that more information on specific errors will be found. Perhaps the fault causing her son’s symptoms is on a different gene.

Additionally, Shelley reminds families to look at the bright side. For example, she notes that she was first upset when her son was put in a wheelchair. But she later realized that this wasn’t something that held him back – it was something that allowed him to be more free.

Listen to the full podcast here.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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