Valuation of Treatments for Rare Diseases: A Systematic Literature Review of Societal Preference Studies

Dabbous, O.; Chachoua, L; Aballéa, Samuel; Sivignon, Marine; Persson, Ulf; Petrou, Stavros; Richardson, Jeff; Simoens, Steven; Toumi, Mondher

doi:10.1007/s12325-022-02359-z

Cited by 3 publications

(3 citation statements)

References 50 publications

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“…The impact of disease severity was deemed more important for decision makers by the Expert panel than the implications of rarity and should be formally and consistently accounted for in future vaccine HTA/CEA. This is supported by a recent systematic review showing a societal preference for investing in rare diseases, which was driven by the disease severity, lack of alternative options, and a desire to be able to treat all people [ 24 ]. Recently, the UK’s HTA guidelines, from the National Institute for Health and Care Excellence (NICE), have been updated to allow greater weight in CEA for health benefits in severe diseases (replacing greater weight for end-of-life health gains), as well as allowing more flexibility with regard to uncertainty when generation of supporting evidence is challenging, such as for rare diseases [ 25 , 26 ].…”

Section: Resultsmentioning

confidence: 93%

Rule of Prevention: a potential framework to evaluate preventive interventions for rare diseases

Gibson¹,

Ollendorf

Simoens

et al. 2023

Journal of Market Access & Health Policy

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Background: The benefits of preventive interventions lack comprehensive evaluation in standard health technology assessments (HTA), particularly for rare and transmissible diseases. Objective: To identify possible considerations for future HTA using analogies between the treatment and prevention of rare diseases. Study design: An Expert panel meeting assessed whether one HTA assessment framework can be applied to assess both rare disease treatments and preventive interventions. Experts also evaluated the range of value elements currently included in HTAs and their applicability to rare, transmissible, and/or preventable diseases. Results: A broad range of value should be considered when assessing rare, transmissible disease prevention. Although standard HTA can be applied to transmissible diseases, the risk of local outbreaks and the need for large-scale prevention programs suggest a modified assessment framework, capable of incorporating prevention-specific value elements in HTAs. A ‘Rule of Prevention’ framework was proposed to allow broader value considerations anchored to severity, equity, and prevention benefits in decision-making for preventive interventions for rare transmissible diseases. Conclusion: The proposed prevention framework introduces an explicit initial approach to consistently assess rare transmissible diseases, and to incorporate the broader value of preventive interventions compared with treatment.

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Section: Resultsmentioning

confidence: 93%

Rule of Prevention: a potential framework to evaluate preventive interventions for rare diseases

Gibson¹,

Ollendorf

Simoens

et al. 2023

Journal of Market Access & Health Policy

Self Cite

View full text Add to dashboard Cite

show abstract

“…These treatments are often expensive, and insurance companies or public health agencies must estimate the treatment cost before making it available, which is impossible without accurate incidence data. 9 Next-generation sequencing (NGS) has generated a large amount of genomic data from patients and normal populations. These data provide an excellent opportunity to directly estimate disease incidences.…”

Section: Introductionmentioning

confidence: 99%

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Tsai

Hung

Lin

et al. 2023

Preprint

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Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence in Taiwan remains unknown. In this study, we used high-coverage WGS data from 1,495 Taiwanese individuals obtained from the Taiwan Biobank. We found 3,826 variants in 71 genes responsible for autosomal recessive LSDs. We first excluded benign variants by allele frequency and other criteria. As a result, 270 variants were considered disease-causing. We curated these variants using published guidelines from the American College of Medical Genetics and Genomics (ACMG). Our results revealed a combined incidence rate of 13 per 100,000 (conservative estimation by pathologic and likely pathogenic variants; 95% CI 6.92-22.23) to94 per 100,000 (extended estimation by the inclusion of variants of unknown significance; 95% CI 75.96-115.03) among 71 autosomal recessive disease-associated genes. The conservative estimations were similar to those in published clinical data. No disease-causing mutations were found for 18 other diseases; thus, these diseases are likely extremely rare in Taiwan. The study results are important for designing screening and treatment methods for LSDs in Taiwan and demonstrate the importance of mutation curation to avoid overestimating disease incidences from genomic data.

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“…New treatments for rare diseases have recently emerged. These treatments are often expensive, and insurance companies or public health agencies must estimate the treatment cost before making it available, which is impossible without accurate incidence data 9 .…”

Section: Introductionmentioning

confidence: 99%

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Tsai,

Hung,

Lin

et al. 2023

npj Genom. Med.

View full text Add to dashboard Cite

Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence in Taiwan remains unknown. In this study, we used high-coverage whole-genome sequencing data from 1,495 Taiwanese individuals obtained from the Taiwan Biobank. We found 3826 variants in 71 genes responsible for autosomal recessive LSDs. We first excluded benign variants by allele frequency and other criteria. As a result, 270 variants were considered disease-causing. We curated these variants using published guidelines from the American College of Medical Genetics and Genomics (ACMG). Our results revealed a combined incidence rate of 13 per 100,000 (conservative estimation by pathologic and likely pathogenic variants; 95% CI 6.92-22.23) to 94 per 100,000 (extended estimation by the inclusion of variants of unknown significance; 95% CI 75.96–115.03) among 71 autosomal recessive disease-associated genes. The conservative estimations were similar to those in published clinical data. No disease-causing mutations were found for 18 other diseases; thus, these diseases are likely extremely rare in Taiwan. The study results are important for designing screening and treatment methods for LSDs in Taiwan and demonstrate the importance of mutation curation to avoid overestimating disease incidences from genomic data.

show abstract

Valuation of Treatments for Rare Diseases: A Systematic Literature Review of Societal Preference Studies

Cited by 3 publications

References 50 publications

Rule of Prevention: a potential framework to evaluate preventive interventions for rare diseases

Rule of Prevention: a potential framework to evaluate preventive interventions for rare diseases

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

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