...the diseases, not the drugs, are the orphans because all drugs are very expensive,3 having marrying this success story (table). ...in some cases, several OMPs are available for the same disease; ...for example, three drugs are licensed for treatment of Gaucher's disease (imiglucerase, velaglucerase alfa, and taliglucerase alfa).15 No evidence favours any one product over the other, and each drug costs about US$200 000 per patient per year. In a landmark departure from previous practice in 2014, the US Senate requested information on developmental costs and numerous other details for sofosbuvir, a drug for radical treatment of hepatitis C virus infection.19 Individual EU member state governments have since increasingly been requesting that industry disclose information about costs incurred during drug development that justify drug prices, but without legal obligations, these requests have largely been evaded. First synthesised in 1869, hydroxyurea has been used for decades in patients with myeloproliferative disorders and is now also indicated for sickle-cell disease.22,23 In the 2017 issue of the British National Formulary, one type of hydroxyurea for myeloproliferative disorders is listed at £0·24 per g, and another type of hydroxyurea for sickle-cell disease is listed at £16·7 per g. Common sense suggests that something must be wrong here.
Albert de la Chapelle (1933-2020) Kääriäinen, Helena; Aittomäki, Kristiina
European journal of human genetics : EJHG,
03/2021, Letnik:
29, Številka:
7
Journal Article
A unique genetic background in an isolated population like that of Finland offers special opportunities for genetic research as well as for applying the genetic developments to the health care. On ...the other hand, the different genetic background may require local attempts to develop diagnostics and treatment as the selection of diseases and mutations differs from that in the other populations. In this review, we describe the experiences of research and health care in this genetic isolate starting from the identification of specific monogenic diseases enriched in the Finnish population all the way to implementing the knowledge of the unique genetic background to genomic medicine at population level.
Biobanks accumulate huge amounts of research findings, including participants' genomic data. Increasingly this leads to biobanks receiving research results that could be of clinical significance to ...biobank participants. The EU Horizon 2020 Project 'Genetics Clinic of the Future' surveyed European biobanks' perceptions of the legal and regulatory requirements for communicating individual research results to donors. The goal was to gain background knowledge for possible future guidelines, especially relating to the consent process. The Survey was implemented using a web-based Webropol tool. The questionnaire was sent at the end of 2015 to 351 European biobanks in 13 countries that are members of BBMRI-ERIC (Biobanking and Biomolecular Resources Research Infrastructure-European Research Infrastructure Consortium). Seventy-two biobanks responded to the survey, representing each of the 13 BBMRI Member States. Respondents were mainly individuals responsible for the governance of biobanks. The replies indicate that the majority of the respondents thought that their national legislation allowed them to contact participants to communicate results, and that research participants had the right to request their results. However, respondents' understanding of their national legislation varied even within member states. Our results indicate that legislation applied to biobanks in many countries may be scattered and difficult to interpret. In BBMRI-ERIC, there is an ongoing discussion about the need for European recommendations on sharing genomic biobank results with donors, which may pave the way for more coherent global guidelines. Our results form a basis for this work.
Increased recognition by governments and by health services of the problems faced by patients with rare diseases has been a major advance, and an important component has been to incentivise the ...development of orphan drugs. However, these incentives have to some extent backfired.
Receiving polygenic risk estimates of future disease through health care or direct-to-consumer companies is expected to become more common in the coming decades. However, only a limited number of ...studies have examined if such estimates might evoke an adverse psychosocial reaction in receivers. The present study utilized data from a sub-section of a personalized medicine project (the P5 study) that combines genomic and traditional health data to evaluate participants' risk for certain common diseases. We investigated how communication of future disease risk estimates related to type 2 diabetes and coronary heart disease influenced respondents' risk perception, self-efficacy, disease-related worry, and other emotions. A randomized controlled trial was conducted, where the experimental group (n = 714) received risk estimates based on traditional and polygenic risk factors and the control group (n = 649) based solely on traditional risk factors. On average, higher disease risk was associated with higher perceived risk (
s, <0.001, η
= 0.087-0.071), worry (
s <0.001, η
= 0.061-0.028), lower self-efficacy (
<0 .001, η
= 0.012), less positive emotions (
s <0.04, η
= 0.042-0.005), and more negative emotions (
s <0.048, η
= 0.062-0.006). However, we found no evidence that adding the polygenic risk to complement the more traditional risk factors would induce any substantive psychosocial harm to the recipients (
s >0.06).
ABSTRACT
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of ...hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype–phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations.
PDF
