Peter Benn In Perspective…

Our featured guest this issue is Professor Peter Benn. Professor Benn has been a lifelong supporter and friend of ISPD. His primary areas of interest have been prenatal screening and diagnosis where he is recognized as an international expert. He is the chair of the ISPD’s Special Interest Group for Prenatal Screening and he chairs the ISPD Committee for Chromosome Abnormality Screening. Professor Benn has been the leading force behind “Prenatal Perspectives” and it is an honor to have him as our featured guest…

Prenatal Perpectives: Where did you grow up?  
Peter Benn:  I grew up in post-war England, in the suburbs of London.  In my early childhood there was still rationing of some food items, no TV, no phone, but we did have a car (that often did not run).  Early education was a struggle but I was the first in my family to go to university.  
My undergraduate studies were at the University of St. Andrews, Scotland.  Initially, I wanted to be an astronomer but quickly discovered the subject was difficult and had limited career choices.   So, I decided to major in physics.  I eventually became interested in radiobiology and radio-labelling chromosomes.  I found that looking through a microscope was every bit as enjoyable as the telescope.  
Where do you live now? 
For the past 39 years, I have been living in the US.  But I am not an American citizen-just on an extended visit.

Where do you work? 
 I am a professor in the Department of Genetics and Genome Sciences, University of Connecticut, Farmington, Connecticut.

What was your training? 
My PhD and post-doctoral training involved cytogenetics.  Although my PhD project did not involve prenatal diagnosis, this work was carried out in the same laboratory and I followed the trials and tribulations.  In the early days, cells often did not grow, culture contamination was common, and obtaining satisfactory metaphase cells was a challenge.  But there was always satisfaction in obtaining information that could be clinically helpful.  Of course, gradually, methods improved and testing became routine.  

What are your current areas of interest? 
My current main interest focuses on non-invasive prenatal testing.  Dennis Lo and colleagues’ discovery of cell-free DNA in maternal plasma has transformed prenatal screening and diagnosis.  This is a wonderful time to be working in this field.  I am interested in how the testing is performed, the improvement over traditional methods, introduction into clinical practice, expansion in the scope of testing, and also the ethical and social implications. 

What had the biggest influence on your career choices? 
I think my career changes came as gentle currents rather than tidal waves that threw me in a new direction.  For example, for many years, in addition to cytogenetics I ran a prenatal screening laboratory.  We evolved from MS-AFP through Triple, Quadruple, Combined and Sequential testing.  NIPT for chromosome abnormalities sits at the crossroad of traditional screening and diagnostic testing.  Therefore, I suppose it was natural for me to pursue NIPT as it was developed.

Who had the biggest influence on your career choices? 
By far the biggest influence is patients with handicaps, their families and also those who go through the stress of prenatal diagnosis.  This permeates all my daily decisions whether it is clinical laboratory, publication, reviewing, or thinking about policies.  But also I have been heavily influenced by colleagues and mentors.  For many years I have collaborated with Howard Cuckle who I regard as one of the most original and creative thinkers in our field.  I also deeply value my association with Eugene Pergament whose strong ethical principles and insightfulness is exemplary.

How is your daily work divided? Do you do any clinical work? 
I do still run a clinical cytogenetic laboratory but increasingly my time is spent writing, reviewing papers, attending and presenting at meetings.  I provide some industry consultation.  Industry and academia need each other, particularly at this time.

How do you stay up-to-date? 
Genomeweb News is one of my most valuable sources of information.  Their twice daily emails provide an interesting blend of business and science.   They are highly effective in identifying important developments.  Meetings, alerts from the journals, and, of course, PubMed are also important. 

In your opinion, what has had the greatest impact on prenatal diagnosis? 
Many of the past contributors to Prenatal Perspectives have made huge contributions. In this context I feel out-of-place in providing this interview because I think their contributions have far exceeded mine.  There are also many more that should be featured in this series of articles.   

What is your primary motivator in life? 
Family.  My wife, Emily, and two sons, Michael and Steven (even though my sons are not too interested in genetics).  

What discourages you the most? 
I have been discouraged by Policy Statements (not ISPD’s) that have sought to limit the scope or groups of women eligible for NIPT without adequately justifying their position.  In part, I think these have arisen because prenatal screening and diagnosis continues to be overly focused on Down syndrome and other disorders where pregnancy termination has been the only option in reducing the burden to families and society.  Contemporary prenatal testing should be considering broader benefits such as identifying where enhanced prenatal or neonatal clinical management is required, increased surveillance of infants at high-risk for sequelae associated with disorders, and recognizing opportunities for early educational interventions.  

How do you see the future of our field?
We need to rethink the purpose of prenatal screening and how it fits with newborn screening, carrier screening, and genomic information acquired at other times.  It is obviously necessary to weigh the evidence and think carefully about social implications of prenatal testing.  Unless there is evidence that harms outweigh benefits, the emphasis should be on providing objective information about all available types of prenatal screening and diagnosis and allowing women to determine what information they would like to receive -and when.  In other words, we need to recognize prenatal testing is also in the era of personalized medicine.

What advice would you give to the juniors in the specialty? 
Most of what you read will fail to recognize that there are other interpretations or possibilities.  Always question and think about alternatives. 

Lastly, if you are not in the laboratory, where are we likely to find you? 
Probably at an airport.  Or, if it’s summer, perhaps in my vegetable garden.  

In Perspective is developed and edited by Reem S. Abu-Rustum, MD. Please send comments and suggestions to