Dr Lorraine Cowley is national lead NMAHP for NIHR CRN Genomics Research Specialty Group and a Principal Genetic Counsellor based at the Northern Genetics Service at Newcastle’s Centre for Life.
She leads a growing team of genetic counsellors, nurses and other professionals such as clinical scientists including:
- nine genetic counsellors (Sharon McDonnell, Stella Robertson, Hayley Walsh, Helen Bethell, Amy Clarkson, Rachel Theobald);
- four trainees (Samantha Chiltern, Rowanne Allan, Rebecca Greer and Victoria Tait);
- and two Genomic Practitioners (Annabel Patton and Brandon Huntsman) at the Northern Genetics Service led by Genetic Counsellors Lindsay O’Dair and Oonagh Claber.
Together they help patients and their families navigate the ever evolving landscape of genetics and genomics, explaining inheritance patterns, how genetics work and how genetic testing may impact on important decisions for their future.
They are passionate about putting the patient first in genomics and call for greater opportunities for NMAHPs to pursue independent research that focuses on patient perspectives.
Supporting patients and families with lifechanging decisions
“The impact of genomics on patients and those closest to them cannot be underestimated,” explains Lorraine.
“Their response to their diagnosis can range from great relief, finally getting the answers they have searched for, for many years, to devastation, being left with more questions than answers and an expectation to make lifechanging decisions. These often pose significant ethical challenges which can be uncomfortable to face.
“It also doesn’t just affect them as individuals. It can have a major impact on their families both on a psychological and social level and can change family dynamics and relationships. Our role as genetic counsellors is to support patients holistically from start to finish and help them understand the implications of what they have learnt and the options available before they make any decisions.”
Lorraine adds “Each individual case has varying complexities but is personal to them, as is the familial context, and discussions with different family members can be heavily nuanced. It can be incredibly challenging with difficult conversations along the way, but it’s hugely rewarding to share their journey, doing all we can to keep patients as well informed as possible using a language everyone can understand.”
Lifelong career
Lorraine’s career in the NHS began when she qualified as a nurse in 1986. Her first nursing role was at St Oswald’s Hospice before moving into cancer care.
She helped to setup a chemotherapy unit at the Northern Centre for Cancer Treatment when it was based at the former Newcastle General Hospital, and it was during this time that her interest in genetics was sparked when she learnt that some types of breast cancer could have a genetic predisposition: BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2).
Of her career Lorraine says “The developments we’ve seen over that time have been so exciting and I’ve felt incredibly lucky to be a part of this field of medicine, especially working for the Northern Genetics Service which came to fruition under the direction of Professor Sir John Burn.”
In 1997 Lorraine worked with a team led by Sir John to support a family from Durham whose GP had carried out genealogy when multiple members of the family were diagnosed with colorectal cancer.
This family were among the first in the world to have a gene variant identified that causes a spectrum of cancers known as Lynch Syndrome – a rare, inherited dominant gene disorder associated with an increased risk of developing bowel, gynaecological (in women) and other cancers of the digestive and urinary tract. They were subsequently referred by their GP to the Northern Genetics Service which was then based at Claremont Place before its move to the Centre for Life.
“It was during this time that I discovered how challenging it could be to discuss hereditary conditions and its implications with multiple members of families,” says Lorraine. “Family relationships are complex, and we learned a lot about shaping our clinical service from these early experiences.”
I’ve been working in genetics for over 25 years now and I’ve loved every minute
Lorraine Cowley, Lead NMAHP for NIHR CRN Genomics Research Specialty Group and Principal Genetic Counsellor for the Northern Genetics Service
Some years later Lorraine was awarded a Nurse Research Training Fellowship in 2007 to undertake a PhD for a project around the same extended family called ‘Genetics and Kinship – Finding Morality at their Intersection’ Living with the aftermath of genetic testing for Lynch Syndrome.
The four-year project was funded by Cancer Research UK and explored how the offer of genetic testing altered the way people within the family thought about kinship. Using visual methodology and qualitative interviews, Lorraine completed her thesis discovering themes addressing the notion of choice in genetic testing and the data shows how moral imperatives to children, to self and to medical research are constructed by participants.
She presented at the BSA Medical Sociology Conference, Durham in September 2010, Narratives of Health and Illness Conference Uppsala, in September 2010 and Collaborative Group of the Americas on Inherited Colon Cancer, Dallas in October 2010, and continued to offer Clinical Research Associate support to ongoing relevant research projects working with Professor Sir John Burn.
This was followed up in 2016 by an article in Edition 30 of Bioethics: What can we Learn from Patients’ Ethical Thinking about the right ‘not to know’ in Genomics? Lessons from Cancer Genetic Testing for Genetic Counselling which explored how individuals within families can hold different views about whether to have a genetic test and how they ethically manage those who have opposite views.
High quality patient and public involvement
When it comes to research Lorraine is passionate about ensuring every project puts patients at its very heart to ensure their voice is clearly heard above all. “I firmly believe that the patient experience is so underrepresented in trials work,” explains Lorraine.
Patients and other members of the public should be encouraged to co-create research projects, working alongside the research team to identify qualitative approaches
Lorraine Cowley
“That way we can successfully produce meaningful outputs with the potential to shape mainstreaming and genetics in a way that keeps the patient at the very centre of what we are trying to achieve.”
Genetic counselling as a career
“As a national team of research interested NMAHPs, we have collectively developed a wealth of experience and research skills over time such as qualitative interview techniques, survey methods and skills in clinical recruitment, survey methodology, statistics and ethnography. We want to be known as independent research leaders,” continues Lorraine.
“Harnessing these skills and knowledge will enable us to drive and shape the research agenda in genomics for the future. Within Northern Genetics Service we have an extremely active research culture here in a hugely supportive environment – someone is involved in a research project at any given time.”
Pursuing a career in genetic counselling is highly competitive. One route to the profession is via the Masters level scientific training programme (STP) in genomics counselling, where access requires you to have a science relating degree and some experience in counselling.
As part of the training you will have the opportunity to conduct a research project and our trainees in Newcastle have led several research projects focused on improving our service and care given to our patients.
Research projects by members of the team have included:
Women’s attitudes towards the use of tamoxifen as breast cancer chemoprevention
Researcher: Hayley Walsh (Genetic Counsellor)
Predictive testing at the Northern Genetics Service in people who do not carry familial BRCA1/2 gene changes: A Service Evaluation of unmet needs
Researcher: Amy Clarkson (Genetic Counsellor)
Service Evaluation – Patient views on telephone and video genetic counselling at the Northern Genetics Service
Researcher: Rachel Theobald (Genetic Counsellor)
How do Genetic Counsellors identify and support patients through mental health challenges arising from or during their Genetic Counselling appointments? A qualitative study
Researcher: Sam Chilton (Trainee Genetic Counsellor)
Return of individual research results from genomic research: A systematic review of stakeholder Researcher: Dr Lorraine Cowley (Principal Genetic Counsellor)
National research
Lorraine’s extensive experience is also evident on a national level. She and previous trainee at Newcastle, Mari Jones, were instrumental in the production of the joint UK Cancer Genetics Group and Fetal Genomics Group Guidance on Prenatal Diagnosis and Pre-implantation Genetic Testing for Cancer Susceptibility Gene Variants.
Lorraine explains: “Some people are at higher risk of developing cancer due to a change in DNA code that makes up one of their genes. This type of genetic condition is called a cancer susceptibility syndrome. If an individual or couple are diagnosed with this condition, they can receive counselling to help them (without obligation) to navigate the options available to them should they wish to have a family of their own and avoid passing the condition on.”
A number of workstreams were involved in bringing the guidance together. Lorraine chaired the second workstream focusing on moderate penetrance genes including dominant-recessive overlap.
International research
Lorraine has more recently become involved in international research. Lorraine was approached by the Newcastle Muscle Genetics team (Professor Jordi Diaz Manera and Dr Ana Topf) who are collaborating with partners in 15 Latin American countries on a project called Latin SEQ.
Latin SEQ offers a type of genetic testing called whole exome sequencing (WES) to diagnose inherited muscle diseases. This type of test can also identify other genetic conditions and therefore may diagnose conditions that patients and their doctors do not expect. There are many potential benefits of having a genetic diagnosis but there are also some downsides, and this is where genetic counselling can play a major and extremely important role.
Yet in many of the 15 countries involved there is no genetic counselling available, and it is the healthcare professionals in the muscle disease service who will inform patients about the sequencing, the possible genetics of their disease and/or any unexpected findings despite having no formal counselling training or experience.
In addition, access to supportive care services within Latin America may vary. Some tailored therapies may not be available even when a genetic diagnosis is found, and equally prenatal testing may not be available due to legal, religious or cultural restrictions.
Lorraine is giving genetic counselling support to this project but she has also submitted a funding application to deliver a complimentary project “Evaluating the delivery of whole exome sequencing for patients with muscle diseases in Latin America (Latin SEQ) – Learning from collaborative experiences (Latin SEQ+)”
Improving patient experience and outcomes
The Latin SEQ+ study aims to evaluate a range of experiences affecting the patients, families, and healthcare professionals with the objective of developing educational input and resources, highlight areas of good practice (as measured against UK genetic counselling standards), share findings with Latin American partners to grow their genetics services and improve patient outcomes, as well as with Health Education England and Genome England to inform UK service development.
The findings of this study, when shared with participating centres, will help to support the development of genetic services in the Latin American countries. In the UK, although we have genetic counselling, WES is also beginning to be offered to patients by doctors who are not geneticists.
We can therefore also learn about developing our own services from the experiences of healthcare professionals and patients in Latin America who do not have genetic counselling services, generating new knowledge about delivering effective genetic counselling to improve patient outcomes in Latin America and in the UK.
A colleague from the School of Latin Studies at Newcastle University will advise on cultural aspects with contacts at Latin Universities such as Columbia. Lorraine will share findings with Genomics England and Wellcome Connecting Science who have given written support endorsing the value of her project.
When asked if she has any advice for nurses, midwives and allied health professionals who are interested in getting into research Lorraine says:
“Access to research is much better than it was 25 years ago. I am really glad I was resilient and am reaping the rewards now. The first bit of research I carried out was a qualitative project and I found it really inspiring, finding out more about patient experiences.”
Another great example of how our experts at Newcastle Hospitals and Newcastle University work collaboratively to translate world-class research and innovation into real world benefit – key to meeting the Newcastle Health Innovation Partners’ vision
Thinking outside the Box
Lorraine discusses accessing genetic counselling as a profession via the STP route further in her article:
Non-canonical Careers: Thinking Outside the Box of Academia and Industry: Dr Lorraine Cowley (Principal Genetic Counsellor)
