Aims: The experience of diagnosis and management of Lynch syndrome can be confusing, isolating, expensive and traumatic for patients. To date, an international examination of the experiences of those living with Lynch Syndrome has not been undertaken. This work explored Lynch syndrome patient barriers to diagnosis, treatment and support; and the perceived psycho-social impact on the individual.

Methods: Participants with Lynch Syndrome were invited via email (Australia) and open and closed social media (Australia and internationally) to complete an online survey conducted by Lynch Syndrome Australia in February 2015 over three weeks. The survey comprised 50 questions (open and closed) exploring: diagnosis; surveillance; the cancer experience; costs and availability of treatment; family history; navigating the health system; lifestyle and attitude since diagnosis and interest in advocacy. The estimated reach of the invitation to participate was approximately 2000 people.

Results: 465 respondents took part in the survey, (>50% from Australia, the remainder from the USA, UK and Europe).  Respondents were predominantly: female (90%) between 40 and 69 years of age (71%), the first to be diagnosed in their family (38%), and managing their own care (47%). Over half of Australian respondents had elected for preventative surgery and over a quarter stated that at least one family member had been diagnosed with ≥3 Lynch related cancers. Out-of-pocket costs and healthcare workers’ lack of knowledge about Lynch Syndrome posed barriers to screening, timely diagnosis and treatment, ongoing surveillance, and support.  

Conclusions: These findings further our understanding of the experiences of those living with Lynch Syndrome. The self-selecting nature of participants mean that less is known about the experience of males with Lynch syndrome and people under 30. International collaboration between Lynch syndrome advocacy groups and champions within the medical profession is essential for shaping Lynch syndrome research.