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Edition of 28 June 2019

International News

India: Contributions of rare disease patient groups

A paper published in the Orphanet Journal of Rare Diseases sought to assess the origins, contributions and challenges faced by a number of Indian rare disease patient groups. As a whole, their contributions to rare disease diagnostics and treatments has proved to be very positive. The authors stress the fact that they have played a significant role in raising awareness about newborn screening, prenatal diagnostics and genetic counselling.

Orphanet J Rare Dis. 2019 May 29;14(1):117.

Consult the PubMed abstract

USA: Your DNA and Cure for Rare Disease partnership for spreading information on genomic technological advances for rare diseases

YourDNA, a digital meeting space for learning about genetic and genomic science, and Cure Rare Disease, a biotechnology company working in the field of rare diseases have announced the set up of a partnership in order to raise awareness and contribute to the fight against rare diseases. They hope to spread information on consumer genetic testing and the state-of-the-art developments in this innovative area of research.

Chan Zuckerberg Foundation’s announcement of a new rare disease specific programme

The Chan Zuckerberg Foundation announced on June 11 the launch of a programme called Rare as One with the objective to contribute to advances in the field of rare diseases. It offers the possibility to patient led organisations to apply for a two-year grant opportunity to provide them assistance in launching and developing a research network within their area of expertise. In total the project aims to help 10 patient organisations by offering training, capacity-building and community mentorship services. It also encourages the organisations to interact and collectively contribute in an effort to identify the most urgent needs in the field of rare diseases.
The Rare As One programme will accept Letters of Interests until 5 p.m. Pacific time on Tuesday, 23 July 2019.

For any additional information contact: rareasone@chanzuckerberg.com.

Read more
Consult Rare as One website

European News

State-of-the-art of rare immune disorders disease registries in Europe

A paper published in the Annals of Rheumatic diseases on 15 June aimed to analyse the rare immune disorders disease registries and research networks in Europe through a survey conducted amongst members of the Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease (RITA) European Reference Network. It emphasised the key role of national and international organisations in Europe to collect and organise clinical data on immune diseases and build research networks. The study also points out the fact that RITA network could play a more central part for the coordination of the various entities concerned and provide support for the collaboration initiatives. The paper also suggest possible improvements in terms of patient safety, outcome data and quality of life measures for registries included in the RITA network.

Annals of Rheumatic Dis. 2019 June 15; 78 (2).

Consult the abstract

Genetic Alliance launches a petition calling for the United Kingdom continued support and involvement in ERNs

The UK is set to leave the European Union. At present the UK Government and the EU have not agreed on a withdrawal procedure that protects the UK’s ability to continue to be involved in ERNs. Without continued involvement of the UK, the capacity of ERNs will be diminished and networks risk falling short of their ambition to raise standards and equity in rare disease care across the EU. Genetic Alliance UK has developed a statement, in collaboration with a number of experts working in the rare disease field, on the importance of the UK’s involvement in ERNs. You can view the statement here and add your signature to the document to demonstrate your support.

The statement and the #ProtectERNs campaign is calling on the UK Government and the EU to secure the sustained involvement of the UK in ERNs.

For too long patients and families affected by rare conditions across Europe have struggled to access a correct diagnosis, specialist knowledge, and appropriate treatment. ERNs offer a unique opportunity to transform care and treatment for patients, but only if we can maintain momentum and ensure they can utilise all the specialist knowledge and health data available to them.

Sign the document

Health Economics

Features of legitimacy of healthcare coverage decision-making processes

A study published in the International Journal of Health Policy and Management aimed to reflect on how the diverse features of decision-making processes can be aligned with accountability for reasonableness conditions to guide decision-making towards legitimacy. This was done for the case of rare disease and regenerative therapies. It was found that there was a need to design and refine approaches for participation and deliberation, foster transparency, and consider attentively multiple decision criteria that reflect normative and societal objectives.

Int J Health Policy Manag 2019, 8(7), 424–443

Consult the abstract

RADIOS: an automated economic assessment of newborn screening for rare diseases

A paper describes the development of RADIOS, the Rare Diseases Ontology for Simulation. It is a tool which allows for an automated economic assessment of newborn screening for rare diseases. The ontology serves as a data repository to automatically build simulation models for the economic assessment of newborn screening for rare diseases.

J Biomed Inform. 2019 May 22:103216

Consult the PubMed abstract

Orphan drugs

Patient reported outcome data and orphan drug labels

A study focusing on patient-reported outcome (PRO) data for orphan therapies aimed to review the trends regarding PRO-based labeling granted by the United States Food and Drug Administration (FDA) for orphan drugs. The findings suggest that the PRO measures used as primary and secondary endpoints increased after the release of the draft FDA PRO guidance but remained relatively low in the subsequent period. Hence the authors recommend to question this lack of use of PRO measures which ensure that treatments are reviewed through the patients’ perspective.

Val in Health 2019, May 17

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Comparison of European and United States orphan drug policies and regulations

A review article published in the Journal of Pharmaceutical Health Services Research aimed to establish a comparison of regulations and policies as regards to the accessibility of orphan drugs in European countries as well as the United States. The information collected was regrouped under six headings: orphan drug policies, marketing authorisations, incentives offered, pricing of orphan drugs, reimbursement and pharmacovigilance. The paper concludes that the differences observed in the various countries studied (pricing, reimbursement, legislation,…) might impact the accessibility and availability of orphan drugs and that amendments should be made keeping in mind the objective of increasing such accessibility and rare disease patients’ quality of life.

J of Pharma H Serv Res, 2019 May 27

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Special report on paediatric oncology drugs

In a special report the issue of the limited number of anticancer drugs approved for children is analysed. The report summarises the relevant pieces of U.S. legislation that provides the evaluation and approval of drugs framework used to treat children with cancer. It also reports that the Food and Drug Administration has approved 38 new drug applications for paediatric oncology indications including 12 new molecular entities.

Ped Blood & Can, 2019 May 30: 66, (8).

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Ethical Legal and Social

Care for patients with rare tumours

A chapter in the Principles of Specialty Nursing book series explores care of patients with rare tumours. Most notably, it analyses and suggests ways for nurses to care for people affected by rare cancers and the specific knowledge needed all along the cancer process. The article also mentions issues of disparity in terms of equity between countries or regions.

Fernández-Ortega P., Bonilla I. (2019) Rare Tumours. In: Charnay-Sonnek F., Murphy A. (eds) Principle of Nursing in Oncology. Principles of Specialty Nursing. Springer, Cham

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Healthcare transition from childhood to adult for Hirschsprung’s disease patients

A chapter in Hirschsprung’s Disease and the Allied Disorders analyses healthcare transition from childhood to adult in the case of people affected by Hirschsprung disease. The authors recommend for medical care to be seamlessly continued from childhood to adulthood in terms of diagnostic criteria, severity classification, guidelines, education, and guidance of medical support.

Soh H. (2019) Health-Care Transition for Patients with Allied Disorders of Hirschsprung’s Disease. In: Taguchi T., Matsufuji H., Ieiri S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore

Consult the abstract

Bioinformatics and Biotechnology

PEDIA: image analysis by deep-learning algorithms

An article published in Genetics in Medicine presents PEDIA, prioritisation of exome data by image analysis. The method designed uses portrait photographs for the interpretation of clinical exome data. For each member in the cohort frontal photos, clinical features, and disease-causing variants were compiled and multiple exomes of different ethnic backgrounds were simulated. The authors conclude by confirming the possibility to use image analysis by deep-learning algorithms to quantify the phenotypic similarity and to advance the performance of bioinformatics pipelines for exome analysis.

Genet Med. 2019 Jun 5

Consult the PubMed abstract

Genome sequencing: An appraisal

An article published in the Journal of Medical Genetics, reviews the use of genome sequencing as a diagnostic tool. Most notably it argues that it would be very beneficial to use it as a first-tier diagnosis. Indeed, the superior genomic coverage, types of pathogenic variants detected, simpler laboratory workflow enabling shorter turnaround times, diagnostic and reanalysis yield, and impact on healthcare according to the authors prove the validity of such a technique and especially in the case of critically ill neonates.

J Med Genet. 2019 Apr 25. pii: jmedgenet-2019-106111

Consult the abstract

Mobile application for Huntington’s disease diagnosis

A team of researchers at Kansas University of Technology has developed an application helping in detecting symptoms of Huntington’s disease. The mobile application offers a set of tests as a means to inform the user of the presence of the symptoms and then advise further medical professional consultations. It is the first known attempt to transfer this kind of test on a digital platform which allows the patient to take the test more often.

Artificial intelligence to identify rare disease aetiology and improve diagnosis

A new algorithm using artificial intelligence as a means to detect causes and help for the diagnosis of rare disease has been developed by a set of Belgian scientists, the Variant Combinations Pathogenicity Predictor (VarCoPP). It allows to test simultaneously the combinations of different variants in gene pairs to predict their potential pathogenicity. In addition, ORVAL, the Oligogenic Resource for Variant AnaLysis, on online diagnostic tool has been designed. It aims to identify networks of patient pathogenic variant combinations in order to reveal the causes of a disease for patients for whom traditional diagnostic pathways are not possible.

Nucleic Acids Res. 2019 May 31. pii: gkz437

Read more on VarCoPP
Consult the PubMed abstract

Artificial intelligence for drug discovery

A study focused on the use of artificial intelligence in the drug discovery process. Indeed, it is highly useful in order to make sense of the complexity of genomic data and to guide decision-making. Phenotypic prediction in particular is useful for this process as well as for precision medicine. Hence, the researchers emphasise the importance of the quality of data and of the use of transparent methodologies.

Expert Opin Drug Discov. 2019 May 29:1-9

Consult the PubMed abstract

Automated phenotyping and interpretation of rapid whole-genome sequencing

Stemming from the observation that rapid whole-genome sequencing can facilitate greatly the diagnosis and condition of critically-ill children with genetic diseases and of the difficulty to interpret the results, a team of researchers set out to design a platform for population-scale, provisional diagnosis of genetic diseases with a system of automated phenotyping and interpretation. As a result, the scientists found that genome sequencing with automated phenotyping and interpretation is likely to facilitate and enable the implementation of this diagnostic tool in intensive care units and allow for the timely adoption of adapted treatments.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177.

Consult the PubMed abstract

Data Management

Ontology mapping

An article published in Drug Discovery Today describes the progress of ontology mapping in the current period of data proliferation. It shows how it enhanced the development of semantically aware applications and some challenges that need to be faced and solved. For instance, there is a crucial need for semantic alignment and data standardisation in order to be able to use developing technologies such as machine learning which is currently met, as the authors say, by the implementation of the FAIR principles. Ontology mapping then further enables the interoperability of data.

Drug Discov Today. 2019 May 31. pii: S1359-6446(18)30421-5.

Consult the PubMed abstract

Next generation sequencing: promising innovations

A recent article presents the state of the art of next generation sequencing including innovative techniques and how they might overcome the limitations of some currently used. These latest advances include third-generation long-read sequencing, nanopore technology, in situ nucleic acid sequencing, and microscopy-based sequencing. The authors then claim that these innovations and their evolution are key to the spread and implementation of personalised medical care in the future.

Semin Thromb Hemost. 2019 May 16

Consult the PubMed abstract

Screening and Prenatal Testing

Trends in prenatal screening

A paper published on 31 May explores the trends in prenatal genetic screening and testing. The authors state a general move towards non-invasive or less-invasive type of screening. Nonetheless, they also claim that non-invasive prenatal testing (NIPT) does not replace entirely other invasive techniques. Non-invasive prenatal testing positive results must still be confirmed by more invasive methods. Technological advances being currently developed are paving the way to better NIPT accuracy, and an extension of the tested defects but invasive techniques still remain necessary. Finally, the authors conclude by declaring that technological changes will make NIPT evolve from a screening method to a diagnostic test.

F1000Res. 2019 May 31;8. pii: F1000 Faculty Rev-764.

Consult the PubMed abstract

Study Design

Revision of Airlie House amyotrophic lateral sclerosis Clinical Trials Consensus Guidelines

A report article for the Neurology journal, presented a revision of the 1999 Airlie House consensus guidelines for the design and implementation of preclinical therapeutic studies and clinical trials in amyotrophic lateral sclerosis. They established 9 areas of need in research: preclinical studies; biological and phenotypic heterogeneity; outcome measures; disease-modifying and symptomatic interventions; recruitment and retention; biomarkers; clinical trial phases; beyond traditional trial designs; and statistical considerations. A set of guidelines was produced based on a background of developing a (pre)clinical question and a rationale outlining the evidence and expert opinion which is set to improve clinical trial design and the generation of effective treatments for amyotrophic lateral sclerosis patients.

Neurology. 2019 Apr 2;92(14):e1610-e1623.

Consult the PubMed abstract

Quality of life

Investigating the factors leading to a decrease in oral health-related quality of life

A study published in Orphanet Journal of Rare Diseases, aimed to assess the association between oral health-related quality of life, and demographic characteristics, clinical and dental factors, and psycho-social characteristics in order to investigate the factors leading to a decrease in oral health-related quality of life. The participants were children from 6 to 17 years old and the factors associated with a lower oral health-related quality of life were: being a girl, renouncement to dental care for financial reasons, having syndromic disease, having a problem with tooth shape and color, feeling isolated, alone and different from other children. In addition, the study outlines a lack of psychological support and feelings of fear and anxiety among the parents. The researchers also point out the necessity to make care pathways more legible and provide more financial assistance for the coverage of treatments.

Orphanet J Rare Dis. 2019 Jun 4;14(1):124.

Consult the PubMed abstract

Summary of the edition of 28 June 2019

Editorial
- Editorial
- Spotlight on
Political news
Scientific news
And also...