Improving rare disease diagnosis and outcomes through screening and scientific exchange – what can be done in the Middle East

Inherited disorders and congenital malformations are a leading cause of infant mortality across the Gulf region, accounting for about 40% of infant deaths in the UAE alone.¹ With about 11 million infants born each year in the Middle East and North Africa region, screening for genetic disorders is a public health priority.^2, 

Key issues

• Increased risk of birth defects and congenital malformations Risk of birth defects and congenital malformations increases two-fold above the general population risk of 3–5% for offspring of first-cousin marriages⁴
  • 20% of the world’s population living in communities prefer consanguineous marriages⁴
  • Highest rates of consanguinity (20–50%) have been reported by Arab countries, with 25–30% specifically favouring first-cousin marriages

• Delayed diagnosis Diagnosis takes about 4.8 years and patients often need to visit over seven physicians before an accurate diagnosis is reached⁵
  • Newborn screening (NBS) has the potential to screen for conditions that are not clinically evident and prevent severe health problems or augment a long uncertain journey to diagnosis for patients with rare diseases
  • Adoption of universal NBS leads to a reduction of 50% in direct healthcare costs, without affecting quality of care⁶

Public health policy plays a huge role in appropriate execution of NBS, and opinion in the UAE is evolving. The private sector is in a unique position to support government initiatives by partnering with healthcare professionals (HCPs) and payers to accelerate diagnosis, increase uptake of innovative treatments, and support ongoing patient activation.

Simple solutions

Clinical geneticists, with expertise to manage genetic disorders, are few and geographically dispersed. Paediatricians and other physicians play an important role in diagnosing early to ensure patients receive the treatment and support as soon as possible. Since the number of therapies available that can effectively treat rare diseases continues to grow, timely treatment is vital for survival and beneficial health outcomes in rare diseases.

“Any initiative to accelerate diagnosis in rare disease has to be welcomed. Any delay causes a lot of emotional distress for families and, very importantly, the patient can experience irreversible loss of function whilst waiting for an accurate diagnosis.” – Gavin Jones, Director of Rare Disease, OPEN Health

Awareness initiatives

Companies can help raise disease awareness by engaging with these physicians by driving impactful campaigns using a multi-channel communication approach. Scientific meetings are a valued source of learning among HCPs as they allow for updates on the latest research and interaction with key opinion leaders (KOLs). Companies can support these by ensuring that content is memorable, engaging, and leaves the audience with key messages that will positively affect their clinical practice. Meetings, whether local or international, allow HCPs to interact with experts and facilitate knowledge transfer regarding best practice in diagnosis and referral. Involving patients in these meetings can provide their perspective and help the HCP better understand the patient’s experience. Companies can also help produce practical materials that summarise key information in a succinct way, to serve as a reference for instructing physicians on how to manage or refer patients as appropriate.

Digital tools

As referring and prescribing doctors in rare disease can be small in number and geographically spread, companies can also look to digital initiatives. In addition to activities such as educational and topical webinars, ‘virtual multidisciplinary teams (MDTs)’ are a way of bringing together experts and interested HCPs from disparate geographies to discuss learnings from challenging cases. Online learning platforms with interactive and engaging content can quickly provide audiences with key information, and Independent Medical Education activities offer a route to inform HCPs on broad aspects of rare diseases in a balanced, non-promotional manner.

Patient empowerment

Patients themselves can also be empowered to become ‘experts in their disease’, and utilise information developed by patient advocacy groups, often in collaboration with biopharmaceutical companies. Companies can help here through appropriate engagement of these groups and facilitation with KOLs and other MDT members to ensure the information is complete and relevant.

The aforementioned initiatives can help foster beneficial public–private partnerships to optimize standards of care and health resource utilization. To know more about how OPEN Health can help with all or more of the mentioned initiatives, contact Sahar Samara at Sahar.Samara@OpenHealth.ae from OPEN Health Dubai.

About the authors

Leris D’Costa is a Senior Medical Writer at OPEN Health Dubai, with over 8 years of experience in Medical Communications, and over 3 years of experience in rare diseases involving KOL engagement and consensus generation.

Gavin Jones is Director of Rare Disease at OPEN Health, and is dedicated to ensuring our solutions in rare disease truly meet the unique needs customers and patients have in this area. He has worked in rare diseases for over 10 years across multiple therapy areas.

References

1. Tadmouri GO, et al. CTGA: the database for genetic disorders in Arab populations. Nucleic Acids Res 2006; 34(Database issue): D602–606.
2. Saadallah AA & Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis 2007; 30(4): 482–489.
3. Therrell BL, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015; 39(3): 171–187.
4. Tadmouri GO, et al. Consanguinity and reproductive health among Arabs. Reprod Health 2009; 6: 17.
5. Jones G. Accelerating diagnosis in rare disease. 2018.  Available at: http://www.pmlive.com/pharma_t... (accessed April 2018).
6. Khneisser I, et al. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon. J Med Screen 2015; 22(4): 182–186.