Looking back…and looking ahead

Dr Jane Hurst is a Consultant in Clinical Genetics with a Special Interest in Dysmorphology and a leader in her field. Since 2010 Jane has led the Dysmorphology service at Great Ormond Street. Entering her final year's practice Jane reflects on a distinguished career including a term as President of the UK Clinical Genetics Society

Jane outlined the key principles that have guided her on a journey that began at medical school (below ), and progressed to 40 years of clinical practice that generated research highlighted on the front page of the New York Times[i].

Jane in her medical school days

First and foremost, clinical genetics is a patient facing speciality.” says Jane. “Clinical Geneticists are physicians primarily, caring for patients, sometimes before they are even born.”

Dr Hurst challenges the perception that Clinical Geneticists are laboratory, or desk based when in fact they are out on the wards working with medical and surgical teams, contributing to the overall care and support the NHS provides for patients and families.

Jane’s career has been defined by a combination of patient focus and scientific work and she highlights the skills and principles that have been relevant all of her professional life.

Dr Hurst stresses the importance of good communication. Alongside the diagnosis of rare disease, there is a need to “talk to families, putting test results into context and helping patients and their families navigate the complexities of the NHS”.

Jane worked with the late Robin Winter, Professor of Clinical Genetics at Great Ormond Street Hospital, alongside Dr Michael Baraitser to develop an award-winning database of rare diseases of that could be used to diagnose children with complex and rare genetic conditions. In a notable case Dr Hurst made the connection between a family under her care with another unrelated patient she had seen with what appeared to be a similar pattern of speech impairment.

This connection ultimately led to the identification of a specific defective gene FOXP2, impacting language, shared by both families.

 “We wrote those 24 hour case reports and some of them turned out to be really significant observations, turned into Nature papers and got my on the front page of the NY Times.”

This reflective practise and pioneering attitude meant that, faced with the lack of a clear blueprint for working in the field Jane wrote, with her colleague Dr Helen Firth, the Oxford Desk Reference book on Clinical Genetics. This landmark tome will be familiar to many students and practitioners in the field. It was in part inspired to “help others avoid making the mistakes we made” notes Jane.

Jane references wise words from Nassim Taleb (author of The Black Swan: The Impact of the Highly Improbable) when offering her thoughts on the future of the speciality. “If you are planning a book or projecting and designing a service to last for 30 years, look to what has lasted or has been relevant for the past 30 years as it is likely that this will remain relevant for the next 30. Avoid reliance on a new technology as this may be replaced by something better. What has survived works and can be compared to natural selection.”

Jane stresses the need for trainees and junior colleagues in the field to preserve their clinical diagnostic skills, “AI is only as good as the programmer and computers lack empathy.”

In ten years’ time Whole Genome Sequencing could be part of bedside care but the same clinical problems, family worries and ethical issues will still face those caring for patients and families.”

[i] Researchers Say Gene Is Linked to Language
Nicholas Wade, New York Times, Oct. 4, 2001 https://www.nytimes.com/2001/10/04/us/researchers-say-gene-is-linked-to-language.html