Dubai: From Bahrain to Bosnia and Peru to Pakistan, newborns receive free genetic testing for a rare type of diabetes, of which 80 percent of cases are often undiagnosed, thanks to a $250,000 grant for nurses instituted by the health service based in the United Arab Emirates. Aster DM Healthcare group.
This has been possible thanks to the fact that British nurse Margaret Helen Shepherd, winner of the second edition of the Aster Guardians World Nursing Prize, has dedicated a large part of the prize money to the cause of diabetes care, especially in the field of little-known monogenic diabetes. It is a rare condition that results from mutations (changes) in a single gene. In contrast, the most common types of diabetes (type 1 and type 2) are caused by multiple genes and lifestyle factors, such as obesity in type 2 diabetes.
Speaking to Gulf News ahead of World Diabetes Day, which falls on November 14, Shepherd revealed the impact of winning the award on her life and career, especially in the context of her experience in monogenic diabetes in babies.
Associate Director of Nursing Research and Honorary Clinical Professor of Monogenic Diabetes at the Royal Devon University Healthcare NHS Foundation Trust, the 60-year-old mother-of-three beat out more than 52,000 competitors from 202 countries on the eve of International Nurses Day in May . .
The timing was perfect because their initiative to provide access to genetic testing for neonatal monogenic diabetes through a national network of genetic diabetes nurses in the UK was facing challenges in maintaining funding.
“We originally had a grant to fund neonatal diabetes testing and that grant ran out,” he recalled in a virtual interview.
“Then we started trying to do some crowdfunding and, to be honest, we didn’t have much success with that.”
However, Shepherd’s commitment to offering free genetic testing extended across borders because genetic testing remains expensive. Also, because there is a much higher incidence of neonatal diabetes due to autosomal dominant or recessive causes in countries with high levels of consanguinity where people, for example, can marry their first cousins.
“So the funds from this award have been able to support those free tests, so if we get a phone call from a doctor in a country where the family or the health system cannot afford those genetic tests, then we will be able to fund it with the fund that we have for our neonatal diabetes tests.”
Providing the latest figures, he said: “From September 2022 to August 2023, we provided free genetic testing to 65 people from 50 different referring doctors in 31 different countries.”
Several of these tests carried out after May were funded by the prize money.
On a personal level, Shepherd said winning the award increased his confidence in the work he does in Exeter, England. She highlighted the diverse roles nurses can play in research, clinical care, education and leadership. The award served as a platform to spread awareness globally, reaching areas previously untouched by her efforts, she acknowledged.
Why genetic testing?
Neonatal diabetes, although rare, affects around 1,600 new cases each year worldwide. Many cases of monogenic diabetes are hereditary, accounting for 2 to 5 percent of global diabetes cases.
Shepherd’s research found a prevalence of 2.5 percent in the UK pediatric diabetes population, mostly treated with tablets, not insulin.
Children diagnosed with diabetes younger than six months (neonatal diabetes) likely have a single genetic change. Genetic testing is therefore crucial, as at least 50 percent can be treated with tablets, not insulin, which greatly improves their life.
He noted that 80 percent of patients with monogenic diabetes are initially misdiagnosed as type 1 or, despite its importance, more than 80 percent of cases remain undiagnosed.
Shepherd also explained the distinction between permanent and transient forms of neonatal monogenic diabetes. The former requires ongoing treatment, while the latter may remit and reappear later during adolescence. Genetic testing plays a crucial role in determining the specific course of treatment for each case, offering more stable and cost-effective solutions, she noted.
The Middle East and North Africa has the highest incidence of diabetes in the world, with 192,500 children with type 1 diabetes.
United Arab Emirates case
Shepherd’s association with testing patients in the United Arab Emirates goes back several years. “We have received cases from the UAE, including an Indian child with neonatal diabetes. Genetic testing revealed a mutation in the ABCC8 gene. After switching to a specific tablet, he stopped using insulin within two days, normalized his blood sugar within three months, and is now six years old. While diabetes may return in his teens, he is able to transition to tablet treatment, marking a successful case with positive results.”
When a sick baby presents for the first time, he said, rapidly lowering blood glucose with insulin is crucial. However, for specific genes such as ABCC8 and KCNJ11, a particular tablet offers more stable blood glucose, making it easier to control.
He said it allows babies to produce their own insulin, which creates stability and reduces blood glucose control needs. These tablets are often cheaper than insulin and, for some, help neurological function and address learning difficulties.
“Accurate diagnosis is vital for personalized treatment and offers important benefits.”
Health care professionals should be aware of monogenic diabetes, understand the need for genetic testing, and know how to help correctly diagnosed people change a lifetime of unnecessary insulin treatments.
Since the inception of the Genetic Diabetes Nurse Network in 2002, referrals for genetic testing have continued to increase, with around 4,500 patients in the UK having a confirmed diagnosis of monogenic diabetes. Over the past two years, this training model has been expanded by working with NHS England to provide free virtual training to healthcare professionals across England.
“This has resulted in 1,054 more staff being trained since 2021, with 95 per cent of hospitals in England offering a diabetes service and having a trained and appointed monogenic diabetes lead,” said a proud Shepherd.
He said there are free virtual resources and training courses available for doctors to stay up to date. Maintaining awareness is essential as cases may be rare and continued discussion is essential for effective management. Doctors can also join the training on December 5 and 6 on the Diabetes Genes website.”
Shepherd encouraged all nurses to apply for the Aster Guardians Global Nursing Prize and said she also appreciates the friendship established with the other finalists. “What was a phenomenal opportunity was also meeting the other nine finalists, who were wonderful to hear about the work they are doing, many of them in countries where they have far fewer resources than we do in the UK. We all stay in touch. “We’ve all been supporting each other.”
2024 Edition in Bengaluru
Meanwhile, Aster DM Healthcare said the Aster Guardians Global Nursing Prize 2024, valued at $250,000, will be held again in Bengaluru (Bangalore), India.
The deadline for submissions was extended to December 15 due to an overwhelming global response of more than 40,000 registrations from more than 130 countries.
Nurses from around the world can submit nominations through the Aster Guardians website.