Meet the new members of the Genomics Partnership Wales Sounding Board
At the beginning of July, we welcomed twelve new members to our Patient and Public Sounding Board. They joined a two-day meeting to begin their journey with the programme.
On the first day, the new members took part in an induction session, where they learned about genomics, the GPW programme, and the importance of co-production. The second day saw them participate in their first consultation alongside existing members, where they explored key topics including pharmacogenomics, pathogen sequencing, and the forthcoming Genomics Delivery Plan.
We chatted to some of our new members to find out more about why they joined and what they’re looking forward to most about their time with the programme.
Meet Ruth…
Ruth’s interest in genomics began around 20 years ago when her younger brother was diagnosed with a severe form of Cystic Fibrosis at the age of 20. Because of their mother’s mental health difficulties and her early death, his condition had gone unnoticed throughout his childhood. Later, Ruth discovered she and her 28-year-old son were both carriers of the CF gene while her brother sadly passed away at just 30 after picking up a chest infection while working overseas.
Her brother’s experience, and the outcomes of her own and her sons genetic testing has had a lasting impact on Ruth. She developed a passion for educating future health care professionals and decided to pursue a career in this field, where she worked as an Occupational Therapy Lecturer and later became Head of Learning and Teaching in a Faculty of Life Sciences and Education. Now retired, Ruth still wants to stay involved and contribute, especially in areas like genomics, where better understanding can really improve people’s lives.
By joining the Sounding Board, she hopes to learn more about the current genomics landscape and offer helpful input to projects that raise awareness among both the public and healthcare professionals. Ruth is especially interested in how we involve people in shaping healthcare through education and co-production, and wants to help make policies feel more relevant, real, and grounded to everyday experiences.
Meet Gemma…
Living with multiple disabilities from birth, including the rare condition Klippel-Feil Syndrome (KFS), Gemma has faced significant challenges navigating a healthcare system that she feels often isn’t set up for rare disease patients. She felt a strong need to connect with others who share similar experiences, to speak up, and to help influence policy change that could improve services and outcomes for rare disease individuals. As a result, Gemma began attending Wales Gene Park events such the Big Rare Lunch and their Virtual Genomic Cafes, where she discovered the opportunity to join the Genomics Partnership Wales Sounding Board.
Joining the Sounding Board was an opportunity for Gemma to use her voice—to highlight the complexities and gaps in care, to advocate for better awareness and understanding among medical professionals, and to ensure patients aren’t dismissed as “too complicated.” She is particularly passionate about raising the profile of rare diseases and clinical genomics in Wales and the UK and believes collaboration between specialities is essential to create better care pathways and to ease the burden on patients who often must coordinate their own care.
Gemma is looking forward to building new networks, learning more about genomics, and contributing to discussions that influence research, policy, and practice. She’s eager to help ensure that lived experience shapes future developments in genomics and feels that Patient and Public Involvement and Engagement (PPEI) opportunities like the Sounding Board are crucial—they provide a platform for voices that might otherwise go unheard and offer a real chance to help shape more inclusive, informed, and patient-centred care.
Meet Pam…
Pam was diagnosed with the rare autoimmune condition Dermatomyositis (DM) in 2020, at the height of the Covid-19 pandemic. With restrictions leading to limited access to care and a lack of Myositis specialists in Wales, it was a worrying time for her. Just over a year later, Pam was also diagnosed with Endometrial Cancer and underwent a total hysterectomy. Seven months after that, she developed a blocked kidney and sepsis.
The two-year period was extremely difficult for Pam, and as she struggled to find the appropriate support, she took it upon herself to research her condition. Pam found a sense community via Myositis UK, alongside a Facebook group where fellow members also live with Myositis. After this, she connected with Wales Gene Park and attended a number of their events in Swansea and Cardiff, where she learned about Genomics Partnership Wales Sounding Board and the opportunity to join.
Now a member of the Sounding Board, Pam hopes to advocate for better rare disease care in her local area—especially through encouraging her local health board to engage with the Rare Disease Implementation Network. She’s hopeful that this new role will give her a stronger voice to make these vital conversations happen, leading to better, more integrated care not just for herself, but for others in her community.
Pam believes lived experience must be central to shaping effective services. She’s committed to contributing however she can and is especially interested in the link between Dermatomyositis and cancer, genetic testing, and how family history is factored into cancer diagnoses. She sees the Sounding Board as a vital opportunity to learn, ask questions, and help improve diagnosis and treatment for others with rare conditions.
Meet Elizabeth…
Elizabeth decided to join the Sounding Board for both personal and professional experiences. With a background in clinical sciences, she has always been interested in medical research, particularly in areas that have a direct and meaningful impact on people’s lives. This interest became even more personal to Elizabeth when, after months of uncertainty, her six-month-old son was diagnosed with a rare disease. At the time, there was no genetic test available for the condition, which led Elizabeth to become involved with a support group. Here, she became involved in linking families to researchers to help establish a genetic test and identify children at high risk of certain medical complications, with the aim of alleviating some of the stress placed on families and provide clearer clinical pathways.
Professionally, Elizabeth later worked with families of children facing serious health challenges and witnessed firsthand the significant benefits of timely and accurate diagnoses through genetic testing. In addition, Elizabeth also manages several health issues herself and has experienced harmful side effects from various medications. This has deepened her interest in pharmacogenomics, particularly in how it can predict which medicines are effective and which ones may cause harm.
In joining the Sounding Board, Elizabeth aims to use her unique combination of personal and professional experience to influence decisions in genomic research. She is passionate about bringing the patient perspective to the forefront, especially for families still struggling without a diagnosis. Additionally, Elizabeth is keen to help the public better understand genomics, dispelling any fear and highlighting the vast potential it holds for improving healthcare for individuals and families, both now and in the future. Elizabeth hopes her involvement will make a real difference in the research and implementation of genomic healthcare.