More than 3.5 million people in the UK live with a rare condition, and most of those conditions are genetic. In this first instalment of our Charity Spotlight series, we’re introducing Gene People, a national charity that supports anyone affected by a genetic condition, whatever that condition is. We’re joined by Samantha Barber, Chief Executive of Gene People, and Emily Clark, Gene People’s registered genetic counsellor.
Top 5 highlights from the conversation
1. Rare is not as rare as it sounds
Emily explains that around 3.5 million people in the UK are living with a rare condition, and that figure is probably an undercount. About 80% of those conditions are genetic, and Gene People supports people affected by any of them, across every stage of life, from babies through to older age.
2. The diagnostic odyssey doesn’t have a fixed endpoint
Emily describes speaking to people at every stage of what she calls the diagnostic odyssey: those with symptoms but no diagnosis yet, those newly told a genetic test might help, and those diagnosed years ago who are only now thinking about what it means for a family of their own. For some, contact with the helpline is a single conversation. For others, it continues on and off for years.
3. Why a cross-condition charity, rather than a condition-specific one
Sam explains that Gene People deliberately doesn’t focus on one condition, because many of the conditions it hears about are so rare that no dedicated support group exists at all. Working across conditions also means the charity can spot the questions families ask again and again, whatever their diagnosis, and bring that broader perspective into its advocacy work.
4. A helpline built around families, not just diagnoses
Emily’s genetic counselling helpline reaches people and their families at whatever point they’re at, whether that’s a first phone call after years of unanswered questions, or a check-in from someone who was diagnosed long ago and wants to know what’s changed in the research since. She estimates contact is split roughly 50/50 between phone and email.
5. Strength in numbers, for small charities too
Sam runs Gene People’s partnership network, a free-to-join network of smaller, often family-run rare disease groups, ranging from Facebook communities to registered charities. Access to shared resources, discounted services and an annual symposium helps these organisations meet compliance and governance demands that don’t shrink just because the charity is small.
About Gene People
Gene People is a UK national charity marking 15 years of operation this year (it rebranded from its previous name five years ago). It works in three ways: supporting anyone affected by a genetic condition and their families through its helpline, strengthening smaller condition-specific charities through its partnership network, and advocating for systemic change across the rare and genetic conditions sector.
Samantha Barber is Chief Executive of Gene People. Emily Clark is the charity’s registered genetic counsellor and runs its genetic conditions helpline.
Find out more, or get in touch with the helpline, at Gene People