Dr Ataf Sabir, University of Birmingham, Dr Sufyan Dogra, Bradford Institute for Health Research
I was sitting in the Mosque offering my condolences as a close member of our community had passed away. The deceased lady was in her 80s, so had met many people in her years, reflected by droves of visitors paying their respects. In Islam, the burial often occurs within a few days of the death. Before then, the family sit and receive visitors, often in the Mosque (as it’s bigger and easier). People from all over the country, relatives and non-relatives, members of the local community and wider, friends and acquaintances visit to offer their condolences. People visit in their hundreds, sometimes a thousand or so in the space of a few days. That’s a lot of faces to see. I was sitting quietly, watching the routine; visitors enter, offer prayers, ask what happened, offer condolences and shortly later leave. The closer family and friends would sit for longer, often for most of the day.
I couldn’t help but notice that a gentleman opposite me, who had been there for much of the day, looked a little different. I wasn’t really paying attention at first and thought he looked a little short, but wasn’t sure. But then he got up and walked around and it was clear that he was well below average stature, perhaps 4ft6 or 4ft8. It was not just the stature, but it was as though his arms and legs were proportionately longer than his shorter trunk. He was stocky in build, perhaps in his mid-40s and had distinct facial features. With my experience as a clinical genetics doctor, I was pretty sure he had a genetic skeletal dysplasia (a bone development disorder caused by the genes).
Noticing an individual with a possible rare genetic disorder, is not that unusual, considering 1 in 17 people have a rare disorder.
My intellectual curiosity was ignited. Did he or didn’t he have x, y or z condition? In a doctor’s life, we come across situations like this and have fleeting thoughts of striking up a conversation with the individual to find out the diagnosis, see if the patient knows, or if they have sought medical help. Part of the feeling is altruistic - no doubt - but part of it is curiosity. Anyway, if I went over and spoke to the individual of interest, it is likely to come across as rude. So, I sat where I was and tried not to stare. This was a funeral not a clinic.
Over the next few days, I saw the gentlemen again daily, and wondered a little more if he had this or that sub type of skeletal dysplasia.
It was the day of the burial, a beautiful sunny day. We were at the cemetery, coffin being lowered and more prayers being offered. It is tradition that each attendee takes some soil and throws it over the grave. There were a few hundred of us taking part. It starts by hand and then shovels are used to fill the rest. The grave was filled and a mound of earth was fashioned on top. From death to completion of burial was a less than 48 hours. More prayers were offered and we began to make our way out the cemetery. As we were leaving, I saw another man out of the corner of my eye, who looked very similar to the first (short, stocky, disproportionate), and could have sworn he was the brother of the first man.
I asked my friend if he knew the two and whether they were related. He did, and they were brothers. In fact, he knew them quite well; two of the four siblings were quite short, the related parents were of average stature, and they had never really been investigated, let alone had genetic testing.
Little sparks were firing in my brain. This sounded like a recessive condition. In fact, a specific diagnosis came to mind and if the family was investigated, there was potentially useful genetic counselling that could be offered.
We left the cemetery and went back to the Mosque. Why this family had not been investigated, we postulated. By this time another friend who knew the family said it was probably that they were unaware that something could be done for them and they were used to it. He mentioned that in their family being very short was not unusual, so nobody considered it a medical issue requiring further attention.
He added that within his own family there was probably an unknown genetic condition. He went onto describe a three generation, multiply consanguineous family tree of many affected individuals with what sounded like a neurodevelopmental genetic condition. Different branches of the family had been investigated when the children were young but nothing had come of it. The testing they had was quite basic by today’s standards (though was advanced at the time). I explained to him that newer tests (like genome sequencing) were available, and it would be worth the family reconnecting with their investigating doctors to consider taking things forward. He appreciated the advice and was going to see his GP.
This wasn’t a clinic, but it had started to feel like one. I began to wonder how many families were out there in my own community, British Pakistani Muslims and perhaps the British Muslim community in general, with a possible undiagnosed genetic disorder. Not just undiagnosed, but not investigated or the family not being aware there might be something worth investigating. And why?
This wasn’t a one-off occurrence. Another day - a happier occasion this time - I was sitting at a wedding ceremony table and noticed a child with disproportionate short stature. I happened to know the family and it turned out the child had been investigated but was not followed up. Parents were well educated and were under the impression that genetic testing has been done and nothing was found, and there was nothing that could be done, so that was the end of it. In fact, they were not aware that follow up was due. We had a chat and discussed the possible benefits of relooking into matters perhaps with genomic testing - they were interested.
On another occasion, an elderly uncle from the community was diagnosed with a progressive, rare lung disorder. His sister and brother both had the same, his sister had passed away and his brother needed long term oxygen. This sounded rather genetic to me, and I got talking with the uncle. He asked his GP for a referral to genetics. There are many more vignettes that come to mind, but I think these serve the point.
The vignettes above have occurred over the space of months rather than years. Anecdotal stories, I know, but to me, they are more than a coincidence. To me, it raises the issue of decreased uptake of genetic services in certain communities. If there is, then why is that the case? Is it about access to services (i.e., difficulty getting GP appointments in inner cities) or education (i.e., not realising the utility of accessing services) or stigma (i.e., the label of having a genetic disorder and possible perceived blame of causality if recessive, or related to the choice of cousin marriages in some)?
The issues are not specific to the British Pakistani Muslim community but perhaps they are more acute in this community and certain ethnic minorities. In communities like mine where levels of cousin marriage are higher than the national average, the rate of genetic conditions is higher (in absolute terms only slightly higher but in relative terms a lot more). So, what should and could be done about it? How can genomic advances be made more equally available for all?
There is no easy solution. It’s easy to say we need better education and that education needs to be targeted to communities in their own settings. But these solutions have been branded about for years, yet the gulf of disparity remains.
It’s time to think a little differently. I don’t claim to have all the answers, but a small solution that might help in a small way is better than nothing at all.
We go back to the story of the uncle with an adult-onset progressive lung disorder. We had a good chat and discussed how finding a genetic cause may help in predicting offspring risk and helping his children perhaps in the future. He is a well-educated first-generation immigrant to the UK who has lived most of his life here. He understood the benefits well and took things further. So just having micro-conversations helps, and as the communities see the benefits of genetic testing the barriers may decrease. There are now 700 treatments(1) (where the treatment is directed against the mechanism of the disease) for the 7000 or so rare disorders. This is much better than the 3-4 that were available 30 years ago.
Having more people from diverse backgrounds within the UK represented in genetic research is a great way to better understand the issues faced by those communities and to help overcome some of them. Perhaps there is merit too in moving services into the communities, having clinics in schools, community centres, places of worship – to help educate the communities, break down the barriers, reduced the issues of access and to have a better working relationship with communities.
We know it is difficult to find recessive causes for conditions using genome sequencing, and part of the challenge is having references of genomic data from ethnic minority communities. Moving services into communities and working in partnership with them will help with research data too.
Maybe the next time I find a patient in the Mosque, it won’t be so unusual, it might just be a clinic.
Edited by Dr Sufyan Dogra
Dr Ataf Sabir is a consultant clinical geneticist in the West Midlands. Ataf undertook clinical genetics training in the West Midlands and completed a Masters in Genomic Medicine from the University of Birmingham. He started a fellowship in skeletal dysplasia and clinical trials at The Evelina London Children’s Hospital in 2020, where he was sub-investigator for several rare genetic condition trials. Ataf is particularly interested in identifying genetic causes for unsolved skeletal dysplasia cases where genomic testing is negative, via a multidisciplinary, international collaborative approach. Ataf is a committee member of the UK Skeletal Dysplasia group, an active member of the national musculoskeletal GECIP and lecturer at the University of Birmingham.
Ataf has co-authored over 30 peer-reviewed publications, including the discovery of two new disorders and presented widely at international scientific meetings. Ataf has also undertaken traditional Islamic studies since 2006, having opportunities to study in Yemen and Syria. He is interested in the interplay between genetics, Islam and health inequalities in minority communities.
Dr Sufyan Dogra works as Principal Research Fellow at Bradford Institute for Health Research, and leads on several programmes within Born in Bradford. He does the anthropology of modern Britain, specialising in using qualitative longitudinal research methods in applied health research, public health programmes and how these link with cultural habitats of young people. Through community-driven complex health interventions, he explores ways to encourage healthy behaviours like physical activity, healthy diet, and cultural participation among young people from ethnic/religious minorities and how these can be co-produced to shape public policy. He views healthy behaviours, art, culture, poetry, religion, spirituality, music, ethnicity and diversity as the sites to create synergies for active civic participation and better mental health among young people living with structural inequalities.