Abstract
Dr Wera Hofmann is an expert in biochemistry and has over 12 years of human genetic diagnostics experience. Until 2006, she supervised a diagnostic unit for BRCA gene testing at the Interdisciplinary Center for Hereditary Breast Cancer (Max Delbrück Center, Berlin, Germany). She has also been the Managing Director of the Professional Association of German Human Geneticists, BVDH, which is a trade association. In 2008, Hofmann became a Medical Director at LifeCodexx (Konstanz, Germany), where she has worked on the development of a noninvasive prenatal diagnostic test that detects chromosomal aneuploidies in fetuses.
Could you briefly summarize your education & career to date?
During my professional start at LifeCodexx (Konstanz, Germany) in 2009, we began research on noninvasive prenatal testing and developed our own noninvasive prenatal test, PrenaTest® (LifeCodexx). Before I moved to Konstanz in 2008, I was Managing Director of a medical profession association that was located in Berlin (Germany), specializing in human genetics. I would say that was a very exciting time because between 2007 and 2008, the ‘Genetic Diagnosis Act’, the German law regulating genetic diagnosis, was created. Prior to that, I worked as a scientist at the Max Delbrück Center in Berlin for almost 10 years. During that time I was in charge of the genetic diagnosis of breast cancer, focusing on susceptibility genes and the BRCA genes.
When did you first become interested in genetic diagnostics & why did you choose to focus on breast cancer genetics?
Even as a high school student I was very fascinated by genetics, so in 1988, I studied biochemistry with a focus on genetics. While studying, I had already realized I was very interested in human genetics and, in particular, genetic testing. The reason for this was that in the field of genetic diagnosis, on one hand research is carried out, but on the other hand you have contact with patients and families affected by specific genetic disorders. You also have the possibility to offer them support regarding their disease by studying their genes. This was made possible at the end of 1996 in Berlin, as the German Cancer Aid (Bonn, Germany) started funding a huge research project that had the aim to investigate familial breast cancer in more detail. They wanted to investigate mutation profiles and the incidence of this disease. Another aim was to provide prevention programs, in addition to a therapeutic approach, for affected women and that was a really perfect time for me to switch my research interest after my thesis.
You were previously a supervisor of the BRCA1/2 gene diagnostic unit at the Interdisciplinary Center for Hereditary Breast Cancer (Max Delbrück Center). What were your roles & responsibilities there?
After the establishment of the Interdisciplinary Center for Hereditary Breast Cancer in Berlin, I started as a graduate student, received my PhD on the subject and was, of course, responsible for the genetic testing for the BRCA genes in our laboratory.
When we started the project, my main tasks were the establishment of a laboratory procedure for the sequencing of the BRCA genes, the successful completion of genetic testing of affected women and the reporting of results of mutation analysis to the responsible physician, who would explain the result to the patient during genetic counseling. My work has also contributed significantly to determine the BRCA mutation profile of women with hereditary breast cancer in Germany.
In your opinion, how important is conveying new breast cancer research to women?
I would say it is enormously important. As you know, breast cancer is the most common cancer in women and the number of cancer cases is still increasing worldwide. Therefore, I think it is really important to have stakeholders to support breast cancer projects.
If you follow the recent important publications studying the genetics of breast cancer, you will find that there are a lot of genome-wide association studies that have identified novel loci associated with breast and ovarian cancer risk. All of this genetic information will help not only to improve the diagnosis, but also the treatment of breast cancer in the future.
How did you transition from studying breast cancer genetics to prenatal testing & diagnostics?
That is a bit funny, but actually the main reason was coincidence. If my family had not moved to Konstanz (south Germany), I would have stayed in Berlin and would still be doing political lobbying for human genetics.
Recently, you were involved in developing the PrenaTest®. Could you summarize the potential of this test for women today & prenatal testing in the future?
I would say the main point is that you can offer women a more careful examination by using noninvasive prenatal testing now. Since our method only requires a blood sample from the pregnant woman's basilic vein, it does not bear any risk for miscarriage or malformation and other complications, which invasive diagnostic methods, for example using amniotic fluid, do. Far fewer women will need to have invasive investigations because they can now receive noninvasive testing. I would say, in general, the spectrum of prenatal diagnostics has been extended by new molecular genetic noninvasive testing and this method will establish itself as standard procedure in the care of women; we are absolutely sure about it.
What is the importance of prenatal genetic testing & how could it influence the mother's pregnancy experience?
Prenatal diagnosis plays a very important role in the care of women during pregnancy to ensure that women and unborn children are comfortable during the pregnancy. However, we know that pregnant women can suffer from anxiety about the health of their unborn child during pregnancy because the baby could possibly be affected by a genetic disease. Women have a right to receive optimal care and support, and I think many women would happily choose prenatal diagnosis if it was a standard procedure in their country.
What do you consider to be your greatest achievement to date?
That would be what I have done to help establish the PrenaTest together with the great LifeCodexx team over the past few years. It is without question that noninvasive prenatal testing is part of antenatal care now.
In terms of women's health, where would you like to direct your efforts in the future?
I would say that the two areas that I have worked in so far are still important. Currently, the Prena-Test is offered for the detection of trisomies 13, 18 and, the most common, 21. We are focused on developing our assay for the investigation of all the other chromosomes. Based on deep sequencing and next-generation sequencing technology, we will be able to analyze the fetal genome in much more detail, and we are sure that this will help to avoid other invasive procedures that are necessary to look at the fetal karyotype. However, I am very sure that in the near future we will be able to design a fetal karyotyping method based on next-generation sequencing and based on a noninvasive procedure.
What do you feel the ‘hot topics’ of women's health are at present?
Of course, the fight against breast cancer and the improvement of maternity care. In addition, looking at the health of women of all ages because people are living for longer; I think this is a very important fact to consider.
If you had access to unlimited resources, what research would you conduct & why?
It would be great to have unlimited resources. I would stay in the prenatal diagnosis field. In my opinion, there are two very important issues. First, pre-eclampsia affects approximately 8% of all pregnancies worldwide and is one of the three leading causes of maternal morbidity and mortality. There are many causes that we do not know exactly, but we urgently need to find a good treatment option for this disease. I think another very important project would be not only to diagnose fetal hereditary diseases or chromosomal aneuploidies, but also to treat conditions while the unborn child is still in the womb. To a great extent this has been recently discussed by Diana Bianchi (Tufts Medical Center, MA, USA). She is working on opportunities for an antenatal treatment of Down's syndrome. There are some very exciting preliminary experiments and mouse models that make us think that the prenatal treatment of Down's syndrome is an achievable goal by improving the function of neurons in the brain. I think that is a very exciting project.
Disclaimer
The opinions expressed in this interview are those of the interviewee and do not necessarily reflect the views of Future Medicine Ltd.
Financial & competing interests disclosure
W Hofmann is an employee and shareholder of LifeCodexx AG. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.