Two illustrated health professionals in conversation

Experts through experience: Arti’s story

In today’s #GenomicsConversation blog post, we share Arti’s story of pursuing genomic testing and finding answers about her condition

Arti Patel was born with a genetic condition called Treacher Collins syndrome, which affects the development of bones and tissues in the face. Typical features include underdeveloped cheekbones and jaw bones, and some hearing loss. It can often cause difficulties with feeding or breathing, leading to a need for feeding tubes or tracheostomies. Luckily, this is something Arti has been able to avoid.

A growing interest in genomics

Arti received her clinical diagnosis after birth, but didn’t undergo genomic testing until 2012. She has closely followed research about her condition for many years and has taken a growing interest in genomics.

For a long time, Treacher Collins syndrome was considered to be an condition, which means that affected have a 50% chance of passing on the variant to their offspring.

However, around 10 to 15 years ago, new research concluded that variants in more genes than was originally thought are involved in the condition – and that some of those variants are inherited in an pattern.

Knowing that this new information could have an impact on her future family planning choices, as well as on those of her siblings, Arti decided to try and find out which gene variant she has. She visited her GP and asked for a referral for genomic testing.

Seeking a genetic diagnosis

The GP visit was not the positive experience she had hoped it would be. When her GP asked why she hadn’t been tested at birth, Arti explained that testing was not routinely available on the NHS at that time, so there had been no way of establishing a genetic cause for her condition. The GP questioned why Arti wanted a genomic test now, and whether it was clinically necessary. In the end, her request was denied.

Undeterred, Arti contacted her local genetics department and explained her situation. A clinical geneticist told Arti that she was eligible for genomic testing, which was promptly arranged. A genetic counsellor helped her to consider all the possible outcomes from testing, and Arti’s sibling, who joined her at the appointments, was able to ask their own questions. When the results came back, Arti received a diagnosis that confirmed the genetic cause of her Treacher Collins syndrome: she has the autosomal dominant variant.

Fear of the unknown

Arti was able use her knowledge of genomics to communicate effectively with healthcare professionals and advocate for herself – something, she is aware, that not all patients can do. She believes that there is a knowledge gap among some GPs and other healthcare professionals that can create a fear of genomics. Arti’s message to them is that there is plenty of information about genetic conditions available to those who are open to listening and learning.