On the Leading Edge of cfDNA Discoveries

From Marie Curie’s isolation of radium to Mary-Claire King’s discovery that breast cancer can be inherited, women have helped to advance science in groundbreaking ways, even though it has long been a male dominated field. According to 2015 statistics, women comprised only 28% of science and engineering professions in the United States as well as 28% of research and development occupations globally. [1] Fortunately, there are STEM fields where women are making strides and even achieving parity, such as life sciences (48% women).

One female scientist who stands out in the field of liquid biopsy research is Jacqui Shaw, PhD, a professor of translational cancer genetics at the University of Leicester in the UK. Specializing in both cell-free DNA (cfDNA) and breast cancer, Dr. Shaw is considered an authority on circulating tumor DNA (ctDNA) for early detection and disease monitoring. Her research is focused on circulating nucleic acids for early detection and monitoring of breast and lung cancers. Her recent work has highlighted that molecular relapse can be detected up to two years ahead of clinical relapse through ctDNA [2], and that scientists need to consider both cfDNA and circulating tumor cells in clinical decision-making.[3] Here, she tells us about her journey, successes, and inspirations.

Can you tell us about your research?

Along with my role at the Institute, my research focuses on liquid biopsy in breast cancer. My lab is the cfDNA “hub” for the TRACERx national lung cancer trial, which aims to uncover mechanisms of cancer evolution by analyzing intratumor heterogeneity in lung tumors. I also lead the cfDNA advisory group for the 100,000 Genomes Project led by Genomics England, and I serve on a number of advisory and editorial boards. To support our research, we have implemented Good Clinical Laboratory Practices within my research group; compliance with this QA system is important for a laboratory engaged in translational research studies relating to clinical trials.

Why did you choose a career in science?

I am a very curious person and I was interested in biology and human disease from an early age. I was lucky enough to study for my PhD with Professor Bob Williamson at Imperial College in the late 1980s, and his enthusiasm for science was infectious. This was a time when molecular genetics was just starting to come to the fore. I am passionate about how science can have a positive impact on our lives, and translational cancer research is my natural “home.”

Tell us about a career highlight.

A recent career highlight is working as the cfDNA lead for the TRACERx trial in non-small cell lung cancer (with PI Professor Charles Swanton), and contributing to key publications in the New England Journal of Medicine and in Nature.

Have Ion Torrent systems contributed to any of your successes? How?

Ion Torrent next-generation sequencing (NGS) instruments have transformed our breast cancer liquid biopsy research and have enabled us to detect circulating tumor DNA with high confidence and sensitivity. We have developed and implemented standard operating procedures for our ctDNA workflows so that all samples in a particular study can be analyzed in the same way.

What contributed to that highlight or other successes?

These successes have come from having more than 20 years of experience in the field and from working with large multidisciplinary teams. Science is very much a team endeavor with everyone contributing their particular expertise, so having good communication skills is key to success.

If you could change something about the perception of women in science, what would that be?

I would change the perception that it’s hard for women to take a career break to have a family.

Although science is still male dominated, in some areas things are improving now. This is thanks to more and more women breaking through the glass ceiling and is also a result of cultural changes in the university sector, supported by equality initiatives and the Athena SWAN Charter.

What would you tell others who might be interested in a career in science?

If it is your passion, then go for it—and I’m sure you’ll have a great career. I think overall, we really need to grow the next generation so that our future leaders can come through. The best career advice I have received was to be confident in your abilities, but to never stop doubting them either, so that you are continuously motivated to improve.

Learn more about the NGS technology behind Dr. Shaw’s liquid biopsy research

Sources

1. National Science Board Science and Engineering Indicators 2018: Chapter 3 Science and Engineering Labor Force: Women and Minorities in the S&E Workforce.
2. Clin Cancer Res. 2019 Apr 16. [Epub ahead of print] Personalized Detection of Circulating Tumor DNA Antedates Breast Cancer Metastatic Recurrence.
3. Clin Cancer Res. 2017 Jan 1; 23(1): 88–96. Mutation analysis of cell-free DNA and single circulating tumor cells in metastatic breast cancer patients with high CTC counts.