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Patient Advocacy and Engagement

A desire to improve the lives of people living with rare and inherited diseases is central to everything we do at Congenica, and our patient advocacy and engagement initiative aims to ensure the patient voice is heard loud and clear inside the company.

We also want to help patients navigate often confusing and disparate information by providing educational materials that are trustworthy and helpful. Our aim is to ensure patients, clinicians and researchers understand the patient journey from referral, through diagnosis and beyond.

We strive to help ensure all parties understand the strengths and current limitations of genomic medicine as well as ensuring we work together to realize the full benefits that the genomic revolution promises.

Improving the opportunity for diagnosis

The power of genomics can bring about life-changing answers that enable more meaningful and productive dialogue between healthcare professionals and patients.

Reducing the diagnostic odyssey​

Fast, accurate and early genomic diagnosis significantly reduces the diagnostic odyssey, eliminating unnecessary clinical assessments so that patients quickly get the results they deserve. This reduces anxiety and the worry of not knowing while also supporting psychological closure.

Processes and information you can trust

Our work with regulators and patient groups enables sensitive genomic data to be shared with clinicians who need access in a format that ensures clarity, thereby maximizing the opportunity for effective interactions between the doctor, patients and families while maintaining high-levels of data privacy and security.

What we do

We provide educational materials, training and events for healthcare professionals, patients and carers to help you understand genomic medicine, how it can (and can’t!) benefit, and how to access it.

Unlike a lot of the noise on the internet, and articles hidden behind paywalls in academic journals, we aim to provide easily digestible information from reputable sources that you can both trust and understand.

Dr Charles Steward, Patient Advocacy and Engagement Lead for Congenica

Charles has spent most of his career working on the human genome. He spent more than 22 years working at the UK’s Wellcome Sanger Institute, where he conducted his research for his PhD. Here, he also led the gene analysis for human chromosome 10 and initiated an international initiative to investigate epilepsy-associated genes. He sits on the Genomics England Participant Panel and is also part of the Simons Searchlight Community Advisory Committee in the USA. Charles joined Congenica around five years ago to help further genomic medicine.

“I was inspired to join Congenica and help further the patient impact of genomics by my two young children who have severe neurological disorders. They have been on numerous genome studies, including the 100,000 Genomes Project but are still waiting for a positive diagnosis. As such, I have a particular interest in patient advocacy and engagement.”

You can read a very brief story about Charles’ daughter using the button below.

Read our story

You can also read about both his children on the Borne charity website that raises awareness and money for preterm birth using the button below:

Visit the Borne charity website

I am delighted to have been asked to chair the new Patient Advocacy and Engagement Advisory Board of Congenica, one of the most innovative companies in the genomic diagnostics arena. The Board is a tangible demonstration of the commitment of the company to ensuring that input from patients and families is central to the company’s decision making process, helping to target the real needs of those with life limiting diseases through the creation of opportunities for timely and accurate diagnoses that empower those affected, and those who care for them, to understand and manage their situation better.

Alastair Kent, OBE, FRSA
Chair of Congenica’s Patient Advocacy and Engagement Advisory Board

The Patient Advocacy and Engagement Advisory Board

The role of the Patient Advocacy and Engagement Advisory Board is to be the critical friend of Congenica, ensuring we serve patients to the fullest of our abilities.

The board will inform our product development and communications to make sure they serve patients as best they can.

Board members will also help guide the development of helpful content about genomic medicine and the patient journey. Our goal is to become the go-to, trusted source of information for both patients and clinicians.

Our Advisory Board members

Alastair Kent OBE FRSA

Alastair was the executive director of Genetic Alliance UK for almost 25 years. In that role he was instrumental in creating an influential and respected voice for patients and families affected by rare and genetic disorders that was able to influence and steer policy, help set the medical research agenda and guide service development by the NHS in ways that incorporate the needs and expectations of the millions of individuals and their families affected by rare genetic conditions, many of which are life limiting, progressive and lead to a reduced life expectancy. Alastair was awarded the OBE for his services to healthcare, and made FRSA for his contribution to the advancement of the understanding of genetics in medicine. Since retiring from his role at Genetic Alliance UK he has continued to work on issues affecting patients and families with rare and genetic disorders, chairing national advisory committees, advising leading pharma and biotech companies and supporting patient organisations in order to promote understanding and improve opportunities for those living with these conditions. Quote on joining: ” I am delighted to have been asked to chair the new Patient Advocacy and Engagement Advisory Board of Congenica, one of the most innovative companies in the genomic diagnostics arena. The Board is a tangible demonstration of the commitment of the company to ensuring that input from patients and families is central to the company’s decision making process, helping to target the real needs of those with life limiting diseases through the creation of opportunities for timely and accurate diagnoses that empower those affected, and those who care for them, to understand and manage their situation better. “

Nicola Bedlington

Nicola is a partner in a Vienna- based consultancy focussed on sustainability, and is the lead on health, social policy and engagement. She advises global health bodies and has been the special advisor to the European Patients’ Forum (EPF) since spring 2019. Prior to this she led EPF during its formative years, from 2006, growing the membership from 23 to 75 umbrella patient organisations, and positioning it as the key interlocutor for the EU institutions on cross cutting issues affecting all patients in Europe. She also co-led two flagship European Public Private Partnership on patient education and patient engagement. Earlier in her career, Nicola was the founding director of the European Disability Forum and was an expert for the European Commission on disability policy. Quote on joining ” I joined Congenica’s Advisory Board because I believe personalised medicines, digital transformation and meaningful patient engagement in the life cycle of innovation will define the next Decade for both patients and citizens. I am excited by the contribution the Advisory Board will make in supporting Congenica’s strategy around patient engagement and achieving its overall vision.”

Cor Oosterwijk PhD

Since 2001, Cor has been the managing director of VSOP, the National Patient Alliance for Rare and Genetic Diseases in The Netherlands with a membership of 90 organisations. Cor is a member of national governmental advisory boards in the field of preimplantation genetic diagnosis, neonatal screening and the basic health care package. He is a medical biologist by education, with broad experience in the field of biomedical and clinical research. Quote on joining ” As a father of a son with a chromosomal condition, I know the value of an early diagnosis, good information and shared decision making. I hope that also my interaction with Congenica will be supportive to my mission of giving these values a better place into healthcare”

Malisa Rust

Malisa is the Associate Director of Patient Engagement at PTC Therapeutics. Malisa has over 14 years of biopharmaceutical experience, which spans from Manufacturing, Quality Systems to Quality Operations. After years in the biopharmaceutical industry, she was diagnosed with Alpha-1 Antitrypsin deficiency, which started her journey with Patient Advocacy. With her in-depth process knowledge from an operations perspective to her own journey as a rare disease patient, Malisa understands the need to bridge the gap between the biopharmaceutical world and the patient population. She loves supporting the community by providing education through advocacy to make a positive impact and drive change for our patient communities. Malisa holds her Bachelor’s degree in Biology with a Minor in Physics from California Lutheran University and her Master’s degree in Management and Leadership from Pepperdine University. In her spare time, Malisa is an active volunteer for RARE Science. Quote on joining “My father was misdiagnosed with COPD for almost 15 years until he was diagnosed with Alpha-1 Antitrypsin deficiency. My diagnostic journey did not start until I was symptomatic, but my doctors had a road map. In this sense, I was lucky. Not everyone has this opportunity to start with family history. I am excited to be part of Congenica’s Advisory Board because genomics is driving a fundamental shift in rare disease community by giving patients the opportunity to shorten their diagnostic journey.”

Luke Rosen MSc

Luke is Founder and Board Chair of KIF1A.ORG, inc. Luke and his wife, Sally, started KIF1A.ORG in 2016 following their daughter Susannah’s diagnosis of a rare neurological disease caused by a mutation in her KIF1A gene. In 2017 Luke left a successful career in film and television to accelerate discovery of treatment for Susannah and children like her. KIF1A.ORG is a global community working to drive translational research and develop treatments for KIF1A Associated Neurological Disorder. With a focus on access to genetic testing, research strategy and outcome measures, Luke’s mission is to forge efficient collaborations within the scientific and patient communities resulting in treatment for KIF1A Associated Neurological Disorder, and other rare neurological diseases affecting children. Quote on joining “It’s an honor to work with a team of people so committed to improving the lives of children affected by severe genetic conditions. It’s not about identifying the problem and moving on, it’s about identifying the problem, caring deeply for families and doing whatever is needed to swiftly and safely bring treatment to people affected by rare diseases; people who are racing against time to find diagnosis and cures. Yes, this is a mission I am honored to join, and a mission I know is at the core of Congenica.”

Lynsey Chediak

Lynsey is a Lead on the World Economic Forum’s (WEF) Shaping the Future of Health and Healthcare team. At the WEF, she focuses on spurring global collaboration between the private and public sectors and developing new governance and policy models to accelerate a precision medicine approach to healthcare. She is the former Founder and CEO of a patient advocacy non-profit working to increase patient engagement across hospitals for children living with rare diseases. Prior to the Forum, she worked on health policy in the California Governor’s Office and in the United Kingdom’s Parliament, House of Commons. Lynsey holds a BA from Claremont McKenna College; MSc from the London School of Economics and Political Science. Lynsey is a spokesperson and life-long patient advocate for Shriners Hospitals for Children. Quote on joining “Similar to others living with a rare disease, I can say that genomics has given me fresh hope to continue to battle an unknown, painful disease that adversely impacts my body every day. I am supportive of Congenica’s mission because they are leading the charge to move the long-awaited possibility of genomic medicine into practice. We’ve hoped for this moment as a patient community, and the time is now to accelerate genomic applications that can provide answers about rare diseases in diagnosis, treatment and beyond.”

Congenica is proud to be part of IRDiRC

Congenica is a proud member of IRDiRC, fully supporting the consortium’s vision of enabling all people living with a rare disease to receive an accurate diagnosis, care and available therapy within one year of coming to medical attention.

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