A few weeks ago I found myself marveling, once again, at the power of the patient advocate. I was in my lab in the Institute of Cancer Research, London standing next to the Strictly Come Dancing contestants Anastacia and Naga Munchetty. It was an unexpected position for a scientist to be in! We were meeting to talk about the value of genetic testing for cancer patients as part of BBC Breakfast’s excellent ‘Shine A Light On Cancer’ week. And to mark the 1000th patient at the Royal Marsden that has benefited from the new patient-centred, cost-effective genetic testing process we developed throug ..read more

A few weeks ago I found myself marveling, once again, at the power of the patient advocate. I was in my lab in the Institute of Cancer Research, London standing next to the Strictly Come Dancing contestants Anastacia and Naga Munchetty. It was an unexpected position for a scientist to be in! We were meeting to talk about the value of genetic testing for cancer patients as part of BBC Breakfast’s excellent ‘Shine A Light On Cancer’ week. And to mark the 1000th patient at the Royal Marsden that has benefited from the new patient-centred, cost-effective genetic testing process we developed throug ..read more

GEMSTAR stands for Genetic Medicine Standards Tools And Resources. GEMSTAR is the suite of flexible, user-friendly outputs that TGMI has developed to help deliver safe, consistent, transparent genetic testing. Genetic testing quality is essential High-quality genetic testing is the cornerstone of safe genetic medicine. But to ensure genetic tests are of the right quality we need to decide the quality standards testing should meet. Then we need to develop tools that ensure testing meets the standards. And we also need benchmarking resources that show if, and how well, the standards are met ..read more

We hear a lot about genetic testing being better than ever before. But how can we be sure genetic tests are good enough? Are we able to assess how accurate a test is? How often the test misses things (false negatives) or finds things that aren’t really there (false positives)? And are we able to compare one test against another, so we can decide which test to have?   Sequence quality is crucial To answer these questions we first have to decide what determines how good a genetic test is. One crucial factor is sequence quality. We discussed this in detail in a previous blog. TGMI recently presen ..read more

In 2017, Truven Health Analytics-NPR Health Poll asked 3000 Americans about their experiences and attitudes towards genetic testing. They asked the same questions to a different 3000 people in 2016. This lets us look at how genetic testing practices and attitudes are changing. The results are very interesting. You can read the full report here.   Ancestry information is now a common reason for genetic testing About 400 people had genetic testing in each survey, but the reasons for testing were different. In 2017, a quarter of people had genetic testing to find out about their ancestry. This co ..read more

This week a new company, BEAM therapeutics, was launched. It hopes to use a recent gene editing technique, known as base editing, to make therapies for genetic diseases. It is another exciting example of the huge potential of gene editing in genetic medicine. What is gene editing? Gene editing describes technologies used to change DNA by adding, removing or replacing letters of code, which are called bases. Gene editing techniques have been around for many years, but there has been an explosion of innovation over the last five years. This is mostly due to the advent of CRISPR techniques. CRIS ..read more

Twenty years ago, Massive Attack’s masterpiece, Mezzanine, was top of the UK album charts. It was groundbreaking from the beginning, being the first album available for digital download. Now, in a beautiful science-art collaboration, Mezzanine is to be stored on DNA. In one of the largest DNA storage projects ever undertaken. How does DNA storage of data work? We typically use a binary code to store digital data, a two-bit code often denoted using 1 and 0. DNA is a quaternary, four-bit code denoted with A,C,T,G. So storing data in DNA involves converting a two-bit code into the four-bit DNA c ..read more

Big data has proved to be a major catalyst and a major bottleneck in genetic medicine. We cannot let data alone decide personal healthcare choices, however big it is. We need to turn data into knowledge and knowledge into wise actions. This is very challenging. Frameworks for translating big data into useful outputs are now emerging. How do these frameworks apply to genetic medicine big data?   The 9 Vs of big data In recent years, people have started to breakdown and categorise the matters needing attention when using big data. Such lists define categories using words beginning with the lett ..read more

Today we introduce the Quality Sequencing Minimum (QSM). The QSM is a simple, convenient, comprehensive shorthand to describe the sequence quality of a genetic test. It is obviously essential that our genetic tests are as accurate as possible. And we also must know if, and how, tests are vulnerable to error. The accuracy of the DNA code (i.e. the sequence) generated in genetic tests is critical to this accuracy. So sequence quality determines the overall quality of genetic tests. But what do you know about sequence quality? How often have you seen information about sequence quality? Probably y ..read more

There has been a flurry of articles this week on the FDA’s decision to allow 23andMe to sell direct-to-consumer (DTC) tests for three mutations in the BRCA cancer predisposition genes. Anyone can buy the test, over the internet, without involvement of a health professional. Direct-to-consumer companies say they are empowering people and democratizing access to genetic testing. But many people are worried. Particularly genetic counsellors. Can you be adequately informed about BRCA testing online? Should a test for only three BRCA mutations be sold? Will people be falsely reassured about their c ..read more