Julie: “Could it be MODY?  Genomics is about working with the whole family and making things better for them, if you can”

One of our Lead Nurses urges all colleagues to consider whether patients, with a family history of diabetes, may have monogenic diabetes (MODY).  She also invites colleagues to get involved with the project, which explores genomics as a game changer for patients with MODY.

Julie Goodfellow, Lead Nurse

Julie Goodfellow, Lead Nurse

Julie is part of a multi-disciplinary team providing colleagues with information on how to identify and treat patients with MODY through the regional monogenic diabetes project.

Colleagues who get involved will also be supported in setting up their own multi-disciplinary monogenic diabetes network, to further embed the mainstreaming of genomic medicine into diabetes care pathways.

Why focus on genomics? 

In my clinical role as a specialist nurse in inherited cardiac conditions and part of the Cardiac Family History Service in North East England, I’m part of a small nurse team who provide nurse-led clinics for patients and families referred by hospital doctors, GPs and other health care professionals.

Our role is to investigate patients and families for possible inherited disease, by offering clinical screening tests.  In essence, offering a “cardiac MOT” aimed at picking up early disease and thereby reducing disease impact and improving patient outcomes. Of course, we work in close collaboration with our multidisciplinary colleagues.

If a patient meets the NHS England criteria set out in the Genomic Test Directory, we can also provide nurse-led genomic testing, which gives the potential to provide a genetic diagnosis and the ability to offer predictive testing to other family members.

“I love being able to work with the whole family”

What I love about my role is being able to work with the whole family. Supporting patients through their journey with a genetic condition is complicated.

Sometimes this involves reassuring the worried well and more often we support those at risk of an inherited cardiac problem, helping them to understand and cope with the stressful process of seeking answers.

There are also heightened ethical/confidentiality considerations when working with families, as one person’s information can radically affect the outcomes for other family members.  It’s an interesting area in which to work and I’m excited about applying my learnings to other clinical areas in my secondment to the Genomic Medicine Service Alliance (GMSA).

“I have the privilege of meeting people at their most vulnerable, often when a family member and sometimes sadly a child has died.  You make things better for people if you can.  You can’t always do that in genetics, but we are there for the whole family and we do our best.”

Genomics isn’t new – I’ve been having a ‘genomics conversation’ with cardiac patients for 14 years – but it has rapidly become part of many more areas of healthcare provision and continues to evolve.

So, it’s important for everyone, wherever you are on your genomics journey, and especially nurses, who often have the closest relationship with a patient, to start to build on their genomics knowledge now.

Why is genomics a game changer for managing MODY?

If a patient with MODY is on the wrong treatment, stabilising blood sugar levels and biomarkers for disease can be difficult. Identifying the condition as MODY at an early stage, facilitates patient access to the most appropriate treatment, which in some instances, may not be insulin.  This can reduce the risk of long-term complications of the disease.

It also enables you to engage the wider family to explore whether anyone else is at risk, offer testing and appropriate treatments.

“Genomic testing can be game changing for patients.  It helps us to match the patient to the most appropriate treatment and offer support to other relatives at risk.”

What is the one most important thing you need people to do to help make genomics part of health care? 

Think: Could it be genetic?

When you’re speaking with a patient and they mention that a family member also has or had the condition, think about the possible wider implications for the family.  Genomics often involves putting two-and-two together from a patient’s history and offering support to the whole family.

What’s new and what’s next? 

We recently hosted a ‘Could it be MODY?’ webinar, which you can watch On Demand below.

The University of Exeter provides a wealth of information about monogenic diabetes, and they offer a 2 day online Monogenic Diabetes course and online self-directed learning modules.

Julie ([email protected])