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Editorial
- 20 April 2018
- Orphanet News
Political news
Scientific news
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Edition of 20 April 2018

International News

Early paediatric surgical care for birth defects

An article published in The Lancet reflects on the burden of birth defects causing diseases that lead to high morbidity and mortality. The Global Initiative for Children's Surgery (GICS) initiated in 2016 has provided specific guidelines for safe and affordable surgical care in healthcare systems for children. According to the authors, the proportion of deaths due to birth defects could be decreased by developing early surgical care for children affected by birth defects. By investing in care, this initiative could meet the second target of 'the WHO's Sustainable Development Goal 3' to help cure and improve disabilities associated with birth defects. The article also emphasises on the fact that this type of early intervention can have a potential effect on disability-adjusted life-years (DALYs) and on families economic situation, which could possibly prevent the burden of poverty affecting many families with a disabled child. The authors aim is to refocus the attention on that matter to ensure children global health worldwide.

European News

Early insight into the impact of the Cross-Border Healthcare Directive

A study published in the Health Policy Journal highlights how the implementation of the European Directive on Patients’ Rights in Cross-border Healthcare has impacted patients seeking care in Europe. According to the study, the early outcomes from the directive report little impact in countries, such as the Netherlands, Germany and Belgium where the required system was already in place compared to Estonia, Finland, Malta and Poland more changes have been introduced. The authors mention that at the moment there is little evidence to show the benefit of the Directive implementation related to patients’ rights and that further monitoring is required over a longer period of time to collect evidence to demonstrate that patients have benefitted from the healthcare implemented measures.

Do new copyright reforms put open-science at risk?

Nature has released an article this month highlighting the upcoming vote of the European Parliament on copyright regulation changes scheduled for 23-24 April 2018. These changes in the current copyright law have triggered some concerns and remarks emanating from open-science advocates. The author mentions the growing conflict between the new Directive on copyright in the digital market and European principles of open-science. Most of the concerns are linked to publishers ability to claim royalties from scientists and researchers when sourcing references in their publications. However, the law has not been finalised and many hope for a more realistic version that will meet the European open-science engagements without adding burden upon the field of research.

Health Economic

Model-based cost effectiveness analysis: a useful tool to gauge cost-effectiveness of novel genomic diagnostic tests

Authors of a review published in Nature Reviews Genetics weighs in on the responsible allocation of health-care resources relative to the cost-effectiveness of the increasing numbers of emerging novel genomic tests. Although the cost of sequencing is easier to quantify, the authors maintain that the cost of introducing genomic tests into a health-care system is harder to quantify. The authors believe that model-based cost-effectiveness analysis (CEA) embedded within Health Technology Assessment programmes can provide explicit information on the incremental costs and consequences of new interventions. In this type of analysis, the data are collected from diverse sources and synthesised within an economic model. The authors describe the steps involved in detail, which according to them broadly mirror those for diagnostic tests. They believe that CEA’s must accompany robust research and emphasise the need to support empirical research in order to develop the use of decision analytic model-based CEAs of genomic tests.

Value-based Pricing for orphan drugs

An article published in Value in Health analysed how value-based pricing (VBP), “which grounds the price paid for pharmaceuticals in their value, can manage “affordability” challenges, defined as drugs that meet cost-effectiveness thresholds but are “unaffordable” within the short-run budget.” Among others, the authors analyse orphan drugs as they pose affordability concerns because of the growing number of orphan indications and increasingly high prices. According to the authors, for orphan drugs, the available evidence on research and development trends and returns argue against the need for a higher VBP threshold to incentivise research and development in orphan drugs, given existing statutory benefits provided by orphan drug legislation.

Read the Pubmed abstract

Bioinformatics

FaceMatch: a new tool for facial recognition to help diagnosing intellectual disabled patients

An article published in BMC Blog Network highlights Professor Lovell and Dr Tracy Dudding-Byth FaceMatch “Searching for a diagnosis” project. The promising project is using IMAGUS computer face-matching technology developed for CCTV to help in the diagnosis of individuals with undiagnosed intellectual disabilities (ID). This technology differs from the genomic sequencing approach, which allows geneticist to identify variations in the DNA code but can be limited by the number of unknown genes that delay or make the diagnosis impossible even when testing the 1500 known developmental disorder genes. Parents can decide to participate in the FaceMatch project on their own initiative or can be invited by a doctor to take part in the project. The main goal of FaceMatch is to match as many faces of people around the world with similar facial features to help find a diagnosis earlier and potentially discover new important genes in brain development. This is another way to solve part of the diagnostic odyssey of many children.

The era of cloud computing for genomic resources

An article published in Nature describes cloud computing as an important resource for genomics research. The authors describe cloud computing as “a model whereby users rent computers and storage from large data centres”. The authors project the relevance of cloud computing in an era where data from Next Generation Sequencing are outgrowing single laboratory or institutions and additionally are dispersed geographically. This is especially the case in rare diseases research. The authors describes the cloud computing model and its different forms and the areas in which cloud computing is having an impact on genomics and large genomics collaborations. They detail the advantages of cloud computing which include reproducibility and global access as well as its ability to reanalysis of large-scale archived data sets which enable researchers to reproduce past findings or to ‘borrow’ data to address new questions.

The authors also believe that cloud computing has spurred new thinking on how to design software for large data sets. They address the privacy and regulatory issues surrounding cloud computing. According to them, although it is suited for reanalysing privacy protected data, regulatory and privacy concerns have to be addressed more deeply for geographically diverse data sets as the legislations may differ across jurisdictions.

Screening/Testing

Genomic screening: What is the potential for paediatricians?

A study published in BioMedical Journal highlights how genomic screening can increase diagnostic rates in paediatric rare diseases and the ups and downs of genomic testing related to the potential misinterpretation of genomic data by clinicians. The authors provide an overview of the possible future challenges faced by genomic screening given the complexity of mainstream clinical practice and the need to change the traditional approach to consent by integrating genomics teaching. The goal of this initiative is to train clinicians on the consent forms for Next-Generation Sequencing or Array Comparative Genomic Hybridisation to enable them to perform a new approach and sharpen their skills in the area of genomics.

Mitochondrial disease: A diagnostic burden for patients

A study published in the Journal of Neurology Genetics highlights the diagnostic odyssey of patients with mitochondrial disease due to difficulties in receiving a reliable diagnosis because of the wide clinical and genetic heterogeneity. The authors analysed data from a registry of 210 patients and were able to understand this so-called ‘diagnostic odyssey’ and highlight the burden and the long diagnosis process they have to go through. The study shows that old methods using biochemical testing such as muscle biopsy are being dropped due to the emergence of less invasive and increasingly affordable methods like genetic testing whole-exome sequencing (WES). The study aim was to provide quantitative data confirming the difficulties faced by patients suffering from mitochondrial disease when seeking a diagnosis.

FDA granted new indication of Blincyto in the treatment of acute lymphoblastic leukemia with risk of relapse

The U.S Food and Drug Administration (FDA) has granted approval for a new indication of Blincyto treatment to treat adults and children suffering from Acute Lymphoblastic Leukemia (ALL) with minimal residual disease (MRD). Blincyto has been approved by the FDA to avoid the risk of relapse linked to MRD. The aim of the study is to understand the reduction of MRD after treatment with Blincyto and to investigate further to assess how Blincyto affects long-term survival when used as a long-term treatment.

Ethical Legal Social

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

The authors of a Letter published in Cell Stem Cell describe the results of data generated in the preimplantation genetic diagnosis (PGD) centre of Beclere-Necker hospitals (PCBN) in Paris during the last 5 years and make a case for responsible use of genome editing in the human embryo. At PCBN, more than 1,000 couples underwent PGD, wherein 959 affected embryos were discarded even though many had a good chance of implantation. This was due to the detection of genetic defect/s detected after PGD. The authors recognise that the clinical application of genome editing techniques on human embryos is premature and more research is required to advance this technique. However, they emphasise that once the safety and efficacy concerns for this technique are alleviated, the use of genome editing could enable the rescue of viable embryos in the future, thereby increasing the number of embryos available for transfer, and improving the chance of a successful pregnancy.

The authors believe further research on human models, to assess genome editing efficacy and safety and to improve the performance of the technique, is requisite. However, they specify that this is not possible in France due to the confusing nature of the French law where the creation of ‘‘transgenic’’ embryos is forbidden. Finally, the authors deem that there is a moral duty to consider the potential of genome editing to cure genetic diseases at an early stage of life instead of discarding the human embryos.

Orphan Drugs

Multi-criteria decision analysis: Useful HTA tool for orphan drugs

Multi-criteria decision analysis (MCDA) has been suggested as an alternative to the standard Health Technology Assessment methodology for assessing orphan drugs. MCDA is a methodology for supporting decision making when multiple objectives, aside from cost and efficacy, have to be assessed. Many believe that MCDA could potentially solve methodological difficulties in the appraisal of orphan drugs and has been utilised for HTA of orphan drugs. The authors provide an overview of the existing evidence regarding the use of MCDA in the appraisal of orphan drugs worldwide. They assessed English, French and German literature published between January 2000 and April 2017 identifying seven articles and six abstracts that matched the criteria. The authors concluded that MCDA is increasingly being used to appraise orphan drugs and has extensive potential for decision-making regarding reimbursement for orphan drugs.

Study Design

Treatments' effect Comparison of FDA approved therapeutics' treatment effects

A study published in the BioMed Central Medicine Journal compares the treatment effects among pivotal trials supporting the U.S Food and Drug Administration (FDA) approval of 88 novel therapeutics from 2005 to 2012 based on surrogate markers of disease with those observed among postapproval trials for the same indication. The FDA database determines the indications for which novel therapeutic agents granted orpha designation, and whether applications were designated for priority or standard review. The authors also mention that drug manufacturers must submit well-controlled trials providing drug safety evidence for marketing approval and that trials that use surrogate markers for endpoints can lead to possible errors, and can reduce the certainty of medical products' actual clinical effect. The aim of the study is to integrate surrogate markers into a clinical trial design to diminish potential misinterpretation regarding medical products' effects.

Adaptive designs: what are the benefits when used in clinical trials?

A study published in the BioMed Central Medicine Journal highlights how adaptive trials can be more beneficial than traditional clinical trials. According to the study results, it is clear that traditional clinical trials are inflexible compared to adaptive trials when put into practice. The aim of the study is to discuss the practical aspects of adaptive trials and to their potential benefits providing an alternative with a flexible planning and allowing specified changes to occur while the trial is ongoing and while maintaining it. There are also results showing the importance to report all design specific adaptations to encourage the wider use of adaptive designs with pre-planned opportunities to make design changes in clinical trials. The authors suggest that scientist should share their practical experiences with adaptive designs methods to help future users with the design, planning and the conduct of future trials.

Social Science

Rare genetic disease: Brazil subject to inclusion and exclusion in the globalisation of genomics

A study published in the Journal of Anthropology and Medicine illustrates how interest for rare diseases has emerged within genetic medicine in Brazil and how the study of these diseases is contributing to highlighting the relevance of public health infrastructures, clinical care and research responding to patient demands for treatment. The authors emphasise the need to fully integrate medical genetics into the public health care system by defining norms regarding the utility of genetic tests and to train doctors to recognise rare diseases that exist in the country so as to provide specialised care for people with rare diseases. At the moment the only way of identifying rare diseases is at birth with an official document issued by hospitals registering congenital abnormalities. The registry only records defects that are evident at birth and do not record the late onset of a rare disease associated with adult-onset conditions, such as Huntington or Machado-Joseph disease. The study concludes that rare genetic disease and genetic medicine are something which should be included in the public health system to meet the healthcare needs of patients suffering from a rare disease.

European Reference Networks

ERN-EYE: 3rd Annual General Meeting

An article published in Retina International website highlights the outcomes of the ERN-EYE 3rd Annual General Meeting held in Tallinn 26-27 March. The ERN-EYE network and its members had the opportunity to highlight the achievements of 2017 and the launched of new projects following the 2018 objectives approved by their Board. The meeting enabled nine working groups to establish their roadmap for the coming months ahead, and the network also fixed their second-year goals, by prioritising the development of guidelines and registries. RD-Action was also part of the event, sharing the results of the guidelines workshop held in Rome with all the ERNs last December and where many questions were answered to progress made over the past year.

The ERN-EYE will dedicate their next meeting concerning genetic testing and the progress made until the date of the event happening October 10 to 12 2018 in Florence.

Summary of the edition of 20 April 2018

Editorial
- 20 April 2018
- Orphanet News
Political news
Scientific news
And also...