The Importance of Hematology Working Groups for Rare Genetic Diseases
Authors: Elbagoury Marwan , Kashari Ohoud F. 
Published: February 2021

Rationale

Around the globe, it is now understood that individuals with Rare genetic Diseases routinely face limitations to getting access to diagnosis. Plans have been created to improve the requirements of the patient's communities, including access to multidisciplinary care, and proposing new corrections or amendments to existing strategies. In the gulf region, numerous proposals have been established to tackle the diagnosis and management Rare genetic Diseases.

Introduction and Background

Rare genetic diseases are characterized as life-long, serious conditions that debilitate or compromise life. Almost 80% of Rare genetic diseases are diagnosed during the childhood. Absence of access to these assets affect patients and their families living with complex needs that may incorporate day in and day out observing, continuous serious physical and formative medicines, remaining in the training framework, and now and then costly strength meds1.

The underlying etiology may stay obscure for many patients with rare genetic diseases despite multiple investigations. patients may be assigned an incorrect diagnosis and be referred to several specialties until a correct diagnosis can be made. A correct diagnosis of rare genetic diseases may impact not only the patient's care but may have further implications for management and/or counselling of family members as well2. Also, Early diagnosis leading to early treatment to prevent long-term damage.

Global Landscape3

Rarity of diseases is most commonly defined based on prevalence and incidence within a jurisdiction, or in some cases by a combination of factors based on severity and the existence or feasibility of alternative therapeutic options.

Globally, the following areas of focus aimed at improving the delivery of health care for the rare disease population:

- Improve access to early diagnosis, timely intervention, coordinated care for rare genetic disease patients and developing referral pathways for rare genetic disease patients to facilitate efficient care deliver

- Provide educational resources and knowledge exchange opportunities to health professionals to allow them to better identify, manage and treat rare disea

- support integrated peer networks, patient organizations to ensure that rare disease patients, their family/caregivers and support them to make informed decisions about their condition.

The importance of having working groups for Rare genetic Diseases in Gulf region 4

- Encourage improved coordination of care and access to particular information for rare genetic diseaseses.

- Create a complete system services suppliers over Gulf states.

Assets and Gaps analysis

1- Early Detection and Diagnostics 5

There are resources that assist the diagnostic capacity and early detection for rare genetic diseases.

· Whole Exome sequencing are used mainly for research purposes, despite the fact that their use will reduced diagnostic odyssey.

· Lack of the availability of testing is dependent on budget support in some hospitals.

- Timely Access to Evidence-based care 6

- Family doctors may not be well equipped to meet the needs of patients with rare hematological genetic diseases, even after diagnosis.

- Poor access supportive services for adult care.

- Access to genetic counseling for patients and families outside major academic hospitals7.

References

1. Sawyer, S. L. et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin. Genet.89, 275-284 (2016).

2. Undiagnosed Diseases Network Manual of Operations. (2018).

3. Richter, T. et al. Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. (2015). doi:10.1016/j.jval.2015.05.008

4. International Rare Disease Research Consortium& GUIDELINES Long version. (2013).

5. Clinical Handbook for Sickle Cell Disease Vaso-occlusive Crisis Provincial Council for Maternal and Child Health & Ministry of Health and Long-Term Care. (2017).

6. Therrell, B. L. et al. Current status of newborn screening worldwide: 2015. Seminars in Perinatology39, 171-187 (2015).

7. Stille, C. J. & Antonelli, R. C. Coordination of care for children with special health care needs. Current Opinion in Pediatrics16, 700-705 (2004).

Figure

Disclosures

No relevant conflicts of interest to declare.