theshortread5
Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.Nazneen Rahman is a scientist and a clinician with a long-track record in the discovery and translation of disease genes, particularly cancer predisposition genes, in which is an internationally-recognised expert.

Nazneen Rahman

Nazneen Rahman, Professor of Human Genetics The Institute of Cancer Research

Currently, she is leading two innovative translational research programmes. The Mainstreaming Cancer Genetics programme is undertaking technological, scientific and translational work required to make cancer predisposition gene testing part of routine cancer care, whilst the Transforming Genetic Medicine Initiative  is building the knowledge base, tools and processes required to deliver the promise of genetic medicine.

If that isn’t impressive enough, Nazneen is also a songwriter and a singer, who’s just about to launch her second album. Have you ever heard a scientist sing? If you’re finding yourself in London at the moment, you can attend her intimate launch gig in the legendary Troubadour near Earls Court tonight. 

What are you working on right now?

I am working on two translational programmes that are harnessing the power of new sequencing technologies to bring maximum benefit. The first is called the Mainstreaming Cancer Genetics (MCG) programme. Through this programme, we have made access to genetic testing simpler and more comprehensive for cancer patients, by bringing the consent process into the cancer clinic, whilst retaining specialist genetic care of patients with mutations, and their families. Using fast, affordable NGS sequencing in the lab and mainstreaming in the clinic we now deliver genetic testing to many, many more patients, faster and cheaper than before. We are delighted that many countries are now adopting the model, with equally good results. The second programme is the Transforming Genetic Medicine Initiative (TGMI). This is a multi-disciplinary programme that is building the knowledge base, tools and processes needed to deliver genetic medicine. We have a very active website and a weekly blog that is stimulating a lot of engagement and keeps people to up-to-date with our activities and outputs.

What’s the biggest challenge you face in your work at the moment?

Trying to get people to reset their baseline expectation about the links between genomic variants and disease. There is a universal natural inclination to ‘make connections’ that affects scientists, doctors, patients and the public. For example, if a patient has a disease and their genetic test reveals a rare variant in a vaguely plausible related gene, people over-estimate the likelihood of a link between the variant and the disease. Usually, there is no relationship because we all have tens of thousands of rare variants, including thousands that are predicted to have a ‘deleterious’ impact by current prediction tools. This ‘over-connecting’ problem is leading to errors, confusion and significant harms, for example, people having treatments they don’t need.   

Name one big development that you would like to see in your field the next 18 months.

I would like to see machine learning having a bigger impact in genomic medicine. To date it’s impact has been fairly modest, but there are a number of areas where it could have great utility, for example in the area of variant prediction.

What are you most proud of in your career?

I feel I have a 20-year body of work in identifying and translating genetic discoveries rather than a singular highlight. I do feel proud of the overarching strategy of maintaining strong activity in both the science and the clinic, which is not so common or so easy and has been the foundation of our successes to translate scientific discoveries into clinical benefit.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

I’d love to have dinner with some of the pioneering early female scientists like Mary Anning, Caroline Herschel, Celia Grillo Borromeo, Mary Sommerville. They were extraordinary in so many ways.

What advice do you wish someone had given you at the start of your career?

Science is surprisingly fashion driven, which can be distracting and disconcerting, particularly at the start of your career. One shouldn’t be overly influenced or stressed by this. Stay true to the question you are trying to answer.  


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Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution