26 April 2017
The Princess Al Jawhara Center / Arab Gulf University in Manama witnessed an important event, an international scientific workshop aimed to discuss the mechanisms of preparing a national and Gulf registry for rare diseases and a Gulf plan to deal with rare diseases using international expertise. The event took place on the 7th and 8th of April 2017 at the Princess Al Jawhara Center in Manama following the national campaign through which Princess Al Jawhara Center seeks to contribute to international efforts to promote awareness and to increase the knowledge in the field of rare disorders, considering that new innovative personalized treatments are starting to be available to improve the quality of life of these patients and their families.
The workshop was the first of its kind in the Kingdom of Bahrain, and brought together international experts in genomics, scientific research, public health and patient rights advocates, all of whom discussed ways of placing rare diseases as an important priority in the health care agenda and promote scientific research in the field of rare diseases.
The chair of the organizing committee of the International Workshop, Dr. Cristina Skrypnyk, said that this international European experts shared from their knowledge in the field of establishing a register of rare diseases, develop policies, access to legislation and regulations for dealing with rare diseases as these became a priority in the health care agenda in their countries. She added that the workshop, attended by doctors, geneticists, academics from Bahrain, Kuwait, Dubai, Health authorities representing GCC countries, established a network of cooperation in this field to start developing joint plans to deal with rare diseases. The Chairman of the workshop thanks BAPCO / Wellbeing Project and Shire Biologix for their sponsorship, support and contribution in promoting awareness about rare diseases.
The workshop witnessed the participation of well-known international experts of the Expert Group of the European Commission on Rare Diseases such as Prof. Milan Macek JR. , Head of National Coordination Center for Rare Diseases, Czech Republic, former President of the European Society of Human Genetics, and Dr. Domeinica Taruscio, Director of National Centre of Rare Diseases of the Istituto Superiore di Sanità (ISS, Public Health Institute), Italy. The head of the National Alliance of Rare Diseases Romania, Psychologist Dorica Dan, Dr. Theodora Katsila from the National Genetic Database Association of Greece and Dr. Cristina Skrypnyk, Consultant Medical Geneticist at the Princess Al Jawhara Center of the Arab Gulf University and member of the European Association of Rare Diseases. Dr. Bassil Al-Haiky, Consultant Nephrology at King Abdullah Medical City / Medical Center of the University joined the team of speakers, representing the sponsor Shire Biologix, and presented Bahrain experience in research and diagnosis of a rare disease.
The workshop dealt with many topics that discussed the rare diseases in the age of the genome and its impact on health care, EU strategies in the field of rare diseases, national plans to deal with rare diseases, the rare disease registries, the international experience in prevention, diagnosis and new medicine available for rare diseases, best practices in rare diseases, genetic resources, international cooperation in rare disease research, an overview of the global and national network of patients.
The discussions that took place concluded that there is an urgent need to understand the status of rare diseases and the current gaps in care and support. The main concerns are the lack of resources and information to address these less common illnesses, the extensive time to diagnose a rare disease along with the uncertainty of treating many of them and these are reflected into both cost and emotional stress. The entire care journey for many patients is characterized by misdiagnosis, conflicting medical opinions and stress. The economic impact of diagnosing and managing rare diseases is significant. There is a long road, which frequently includes numerous tests and physician visits, can become financially overwhelming. The factors that contribute to increased costs for rare disease patients, as compared to more common diseases, include: more diagnostic tests, more costly diagnostic tests, more visits to specialists, more mental health support needed.
Dr Domenica Taruscio presented different important European initiatives and specific projects (e.g. EUROPLAN for Rare Diseases National Plans Development; EPIRARE and RD-Connect for registries) and discussed during the workshop models for improving the rare disease holistic approach. Rare-GUIDELINE database was presented as European achievement that brings together clinical practice guidelines on rare diseases allowing to search for guidelines on rare conditions. Guidelines on all aspects of care are included from diagnostic tests through to treatments and organization of care. Documents may be identified by disease name, title or by using the search facility. The quality of the methods used to develop each guideline has been evaluated providing healthcare professionals, patients and policy makers with information on the reliability of the practice recommendations offered. Rare-Bestpractices consortium has produced Rare-GUIDELINE database, a collection of guidelines and RAREGAP, a web-based database for research recommendation on rare diseases Training courses intend to promote a) guideline quality standards and to support the Reference Networks and Centers of Expertise in the development of their capacity to produce and use health care guidelines on rare diseases; b) the establishment of Findable, Accessible, Interoperable, Reusable (FAIR) registries, in compliance with EU and IRDiRC Recommendations. Rare Diseases and Orphan Drugs Journal (RARE Journal) is a new international open access, online, peer-reviewed journal published three times per year, with no publishing fees.
The International Rare Disease Research Consortium (IRDiRC) was presented to the participants by prof. Milan Macek, having as main objective to accelerate translational research in RD by establishing a network of national research funders and representing public and private funding organizations, scientists, regulators, industry and patient groups. It focused on continuous efforts to develop common scientific and policy frameworks to guide the activities of its members.
RD-Connect was introduced by Dr Theodora Katsila as a platform connecting omics data, registries, biobanks and clinical bioinformatics for rare disease research aiming to contribute to the IRDiRC objectives for 2020 and hence, bridge the gaps in rare disease research. Indeed, when rare diseases are considered, patient populations, clinical expertise and research communities are small in number and highly fragmented. The RD-Connect platform will securely integrate -omics data with biosample and clinical information, being a centralised data repository as well as a sophisticated and user-friendly online analysis system. Several tools and services are coupled into the RD-Connect platform. The user-friendly interface enables filtering and prioritization of variants using the most common quality, genomic location, effect, pathogenicity and population frequency annotations.
Proper care and integration of people living with a rare disease (RD) into services/policies is instrumental to improve patients’ quality of life. Rarity, complexity and lack of treatment creates huge obstacles to this integration and, in many cases, significant medical, psychological and social needs are left unmet. NoRo Centre Romania was introduced to the audience by Psychologist Dorica Dan as a resource center accredited for providing both therapies and medical services. Its main objective is to provide integrated social and care services for people affected by rare diseases and their families through improving access to care, information, research and education. NoRo has been established through Norway grants and it was opened in 2011, being inspired from the model of the Frambu Centre for Rare Disorder in Norway, adapted to concrete realities in Romania. Partnerships between public, private and civil society organizations will also have to be strengthened while focus on empowering health services to facilitate integrated care provision, within a holistic and person-centered approach. Mrs. Dorica Dan underlined that being part of a European and international movement and collaboration with professionals and all the stakeholders is the key element to progress in rare diseases. The network has as objective to improve the capacity to advocate for the patients with rare diseases and to make our voice heard.
Challenges and opportunities toward precision medicine in rare diseases were discussed by Dr Theordora Katsila who highlighted the need to turn information growth into knowledge growth and hence, better-informed decisions and shared from Greece experience on pharmacometabolomics-guided pharmacogenomics, an emerging discipline to empower rare disease research. An integrated electronic Pharmacogenomics Assistant (ePGA) that provides personalized genotype-to-phenotype translation services, linked to drug recommendations was presented by Dr Theodora Katsila. The novelty of ePGA web service rests in its ability to translate genotypes into PGx phenotypes and drug recommendations, based on state-of-the- art pharmacogenomics knowledge. ePGA’s acts as a “one stop shop” web portal for clinicians – by supporting them in making informed decisions, and for researchers – by providing a single place with information to understand, document and assess individuals’ differences in drug efficacy.
Application of economic analyses into the application of drugs and devices into health care is termed pharmacoeconomics (PE). Professor Milan Macek emphasized that this subject is of increasing significance due to the gradually increasing health care costs, aging population and introduction of more efficient, albeit more expensive, therapeutic modalities. This discipline substantiates economic efficiency of health care programmes, which is accomplished through economic evaluation where the costs, benefits and consequences of alternative new drugs, therapies and treatments are compared to current standard therapies. He presented cystic fibrosis as a model disease for pharmacoeconomics studies and shared with the participants the assessment f costs of illness of cystic fibrosis with regards to lung disease severity within the Czech health care system. Costs of cystic fibrosis care could be stratified according to the lung disease severity, can vary in different countries and form the basic understanding of for the introduction of CFTR-modulation therapies utilising orphan drugs.
National plans for rare disorders, the recommendations of the European Commission and the EU Council for the EU member countries were overviewed by Dr Domenica Taruscio who presented the main characteristics of a national plan for rare diseases and the map of the countries which adopted a national plan or a strategy and also shared with the audience from the EUROPLAN project activities coordinated by the National Centre for Rare Diseases (Istituto Superiore di Sanità), Rome Italy.
Registries of rare disorders are key instruments for several activities spanning from surveillance of rare diseases, understanding the natural history and how the disease generally progresses, to highly focused questions intended to support decision making. Dr Domenica Taruscio shared from the Italy experience who established a National Registry of rare in 2001 as a network of regional registries and reached in 2011 a full coverage of the Italian territory with a total of 195.492 records of patients with rare diseases, including more than 500 rare diseases are included in the Registry. Physchologist Dorica Dan shared from the NoRo Center Romania initiative of creating a registry for the rare diseasesthat contributes to collect uniform data on a population defined by a particular rare diseasesand serve as a platform for the governmental national plan on rare diseases.
On behalf of the CFTR2.org consortium, Professor Milan Macek summarized the main aspects of a novel approach to clinical and functional annotation of mutations identified in disease-causing genes, using cystic fibrosis and CFTR2 as a model for assignment of variant pathogenicity in rare diseases. Data originated by CFTR2 may be valuable in several facets of CF care, including diagnosis, new born screening, carrier testing, genotype/phenotype correlation and mutation-specific therapeutics. In this regards, cystic fibrosis serves as model for other locus specific efforts aimed as assessing disease liability of variants detected by next generation sequencing.
Professor Milan Macek spoke on behalf of the Orpha.net consortium and presented the main aspects of the biggest data base for rare diseases, the difficulty in maintaining updated information about several thousands of diseases and to provide this information in languages understandable by the end users. The patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases, to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients.
We hope that this workshop is the first step in establishing an integrated health plan in Bahrain and GCC countries, to support the work of doctors and provide better care for patients and their families, learning from the tremendous experience Europe accumulated in this filed.