Mechanisms of support for rare cancers in France
The French National Cancer Institute (INCa) recently published their annual "Synthesis of oncogenetic activity 2013” which reviews the various mechanisms established to manage the issue of rare cancers in France as well as the propositions for the 2014-2019 French National Cancer Plan. This plan is built around three main themes: rare adult cancers, paediatric cancers (all of which are rare cancers) and hereditary forms of cancer. The incidence (number of new cases per year) used to define the rarity of cancer, according to the European consensus, is 6 new cases per 100,000 in the European population.
Rare adult cancers
Set up in 2009, the plan takes into account cancers with low incidence or cancers requiring highly specialised care due to the particular location of the cancer (for eg., uveal melanoma, peritoneal tumours), their occurrence in specific people (for eg., neoplasia in pregnant women), or for their complexity (for eg., soft tissue sarcoma, anaplastic oligodendroglioma). It aims to improve the diagnosis and the treatment of these cancers. To this end, twenty-two regional or interregional expert centre networks coordinated by a national expert centre were established. This organisation enables a systematic double reading of tumour biopsies (pathology) to improve diagnostic certainty and allow all patients to benefit from collegial and specialised care. Access to innovative treatments through the inclusion of patients in clinical trials is promoted. Finally, a major role in improving the knowledge of rare cancers and their treatment by producing recommendations and disseminating information to relevant parties is envisaged. Patient associations, and of course, Orphanet, play an active role towards improved diagnosis and treatment.
For more information on the specific treatment of rare cancers
Learn more about the specific organisation that supports rare adult cancers in France
Paediatric cancers
Even though all cancers in children and adolescents are rare (2500 new cases each year in France), it is the second cause of death for people under 14 and the third leading cause of death for 15-18 years. The management of paediatric cancers is organised through 47 health facilities and 7 interregional centres specialising in paediatric oncology and meet specific criteria in order to be identified as such. All patients benefit from multidisciplinary paediatric interregional cooperation which ensures that they receive high levels of expertise required to diagnose and treat the specificity of these pathologies. INCa has thus identified platforms requiring technical expertise or experience (hematopoietic stem cells, tumours of the musculoskeletal system, brain tumours, implementation of early trials and radiotherapy). The 3rd French National Cancer Plan (2014-2019) aims to:
- Improve the access of children, adolescents and young adults to innovation and research,
- Ensure comprehensive support beyond the care related to cancer so that everyday life can continue for the child and his family,
- And better prepare and monitor the child and family in the post-cancer period.
The tools provided by INCa to combat cancer afford prominence to patient organisations that are committed to support and provide information to patients and their families, but also in the quality of care and research.
To learn more
Hereditary forms of cancer and cancer genetics
In France, approximately 5% of cancers are associated with an inherited genetic disorder, which increases the predisposition of these individuals to cancer. All hereditary cancers are rare, the most common of which are breast cancer, ovarian cancer and Lynch syndrome. In France, oncogenetics consultations are organised through 126 clinical sites in 48 health facilities and 25 genetic laboratories. Synthesis oncogenetics activity that has just been published reports an increase in the activity of these consultations, which supports both the index case (in whom the deleterious mutation is identified) as well as the family. A 15% increase in consultations on new families was recorded, echoing a growing number of index cases being found.
Apart from the management of patients, 28 molecular genetic platforms also examine the genetic characteristics of tumours to offer a personalised care and targeted, innovative therapy for both rare and common cancers. For few cancers, such as gastrointestinal stromal tumour or glioblastoma, the detection of genetic abnormalities also provides access to a targeted therapy. In this context, the FSCA programme (Secure access to innovative targeted therapies) was set up to allow patients experiencing treatment failure and whose tumours have certain genetic abnormalities easier and safe access to clinical trials of novel therapies. The program, made possible through a partnership between INCa and MSNA (Agence française de sécurité sanitaire des produits de santé) is promising this in the context of rare cancers. The 3rd Cancer Plan will also implement a comprehensive analysis of genome sequencing with a goal of sequencing tumours from 50,000 patients by 2019. A national platform for genomics and data analysis of cancer will be created to fuel this research.
Read the summary of the 2013 French Oncogenetic Activity Report
Read the 2013 Activity Report of French Hospital Molecular Genetics Platforms
An editorial published in the Journal of Paediatrics and Child Health describes the price-battle that rare disease patients go through in Australia. Currently, Australia has a Life-Saving Drugs Program benefiting just over 200 patients reimbursing drugs for 7 separate rare disorders. According to the author, there are more drugs that are awaiting subsidies from the government but the exorbitant prices set by the pharmaceutical companies make the scenario unsustainable. The author deems the price charged by the pharmaceutical companies for a drug is much more than what they spend on its development, which according to the author is a global problem. The editorial also raises the ethics of spending more on a small number of rare disease patients vis-à-vis a larger number suffering from common ailments. The author believes that building better business models to make pharmaceutical companies reduce the prices and behave ethically is the answer to get better and fairer treatment for rare disease patients. 
In New Zealand, similar challenges are met by rare diseases patients where subsidising orphan drugs is a highly contentious issue. There is an ongoing struggle between the rare disease organisations and New Zealand’s pharmaceutical management agency (PHARMAC) due to the latter’s stance on reimbursement for orphan drugs. An editorial by the chief executive of PHARMAC in the Bulletin of the World Health Organization describes a strategy of PHARMAC to combat the price struggle. 
The United Kingdom (UK) parliament have voted to move ahead with mitochondrial replacement therapy that could allow women who carry disease-causing mutations in their mitochondrial genes to give birth to genetically related children free of mitochondrial disease. Two methods have been prescribed - embryo repair and egg repair - to create a healthy offspring. Embryo repair involves fertilisation of the two eggs with sperm, creating an embryo from the intended parents and another from the donors. After fertilisation, the pronuclei, which contain genetic information, are removed from both embryos. A healthy embryo is created by adding the parents' pronuclei to the donor embryo (containing the donor mitochondria), which is finally implanted into the womb. The egg repair is similar, except that the mother's genetic material is inserted into the donor egg, which can be then fertilised by sperm. 
The Japan Prize Foundation has recently awarded Alain Fischer, director of the Imagine Institute, and Theodore Friedmann for their pioneering work on gene therapy. Both have been instrumental in bringing the cutting edge technology of gene therapy that is currently pursued by many researchers and pharmaceutical companies as treatments for genetic disorders. Prof. Friedmann, who is considered the “father of gene therapy”, overcame many adversities to propose the concept of gene therapy. His laboratory worked tirelessly to demonstrate the effectiveness of hematopoietic stem cell gene therapy in an animal model during the 1970s. The work that Dr. Friedmann pioneered has contributed to the development of core technologies surrounding today’s transgenic vectors. Not only did Dr. Friedmann pioneer gene therapy, he is also at the forefront of addressing the ethical issues that circumscribe this field. 
The President of the United States (US) has proposed to launch a multiagency initiative in the 2016 fiscal year, to build a cohort of 1 million American volunteers for genomics and other biomedical research. The US$215 million earmarked to gather medical records and genomic data will be utilised to create a databank. The resulting databank will contribute to advancing the knowledge of the underlying biological causes of diseases with an aim to develop “Precision Therapies” for these diseases. Such large cohort studies of both healthy and sick people that represent the general population—often referred to as biobanks—are already established in countries such as the United Kingdom and Japan. The US cohort will be assembled by linking existing cohort studies. Participants will be asked to give consent for extensive characterisation of biologic specimens (cell populations, proteins, metabolites, RNA, and DNA — including whole-genome sequencing, when costs permit) and behavioural data, all linked to their electronic health records. According to Francis Collins, the Director of NIH, this endeavour will create a repository that is superior to a biobank. 
In a study published in Ultrasound Obstetrics and Gynecology, the authors tracked the clinical performance of the company's sequencing-based non-invasive prenatal testing in nearly 150,000 pregnancies. The authors demonstrated that the performance metrics of earlier smaller studies of NIPT — such as sensitivity and specificity, false-positives, or false-negatives — largely hold true in the context of a dramatically expanded group of clinical samples. Overall, the team reported on 146,958 samples from 508 medical centres in mainland China tested successfully between early 2012 and mid-2013 for Trisomy 21, 18, and 13. The study also showed that the test's performance did not differ substantially among higher- and lower-risk women. The results also suggested that high quality NIPT service can be achieved at NGS-based clinical labs with strict protocols and standards. 
The Swedish Information Centre for Rare Diseases is responsible for producing and updating information provided in the rare disease (RD) database of the Swedish National Board of Health and Welfare. The latter is a government agency under the Ministry of Health and Social Affairs, with a very wide range of activities and many different duties within the fields of social services, health and medical services, environmental health, communicable disease prevention and epidemiology.
Health Canada has issued a Notice of Compliance (marketing authorisation) for Pheburane - a tasteless oral formulation of sodium phenylbutyrate - indicated as adjunctive therapy in the chronic management of urea cycle disorders (UCD), involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase or argininosuccinate synthetase. Developed by Medunik Canada, a Canadian pharmaceutical company specialising in orphan drugs, this medication will provide Canadians living with a UCD access to an approved tasteless medication for the treatment of this metabolic disease. Pheburane was granted a marketing authorisation by the European Union in July 2013.
