Pub Date : 2021-09-01Epub Date: 2021-08-18DOI: 10.2217/pme-2020-0185
Tayachew Admas, Aklilu Banjaw
Aim: Personalized medicine (PM) is a novel approach to diagnose and treat disease. The study assessed the knowledge, attitudes and future expectations of healthcare professionals (HPs) towards PM in Ethiopia. Materials & methods: A cross-sectional survey with primary data and a simple random sampling technique was applied to collect data. Results: Our study revealed from a total of 384 respondents, 98 (25.5%), 146 (38%) and 140 (36.5%) had good, medium and poor knowledge of PM, respectively. However, 172 (44.8%), 185 (48.2%) and 27 (7%) had positive, neutral and negative attitudes towards PM, respectively. Conclusion: Most respondent's future expectations of PM were positive. Education level had a significant association with attitudes and other sociodemographic variables were not significant for both knowledge and attitude.
{"title":"Healthcare professionals' knowledge, attitudes and future expectations towards personalized medicine.","authors":"Tayachew Admas, Aklilu Banjaw","doi":"10.2217/pme-2020-0185","DOIUrl":"https://doi.org/10.2217/pme-2020-0185","url":null,"abstract":"<p><p><b>Aim:</b> Personalized medicine (PM) is a novel approach to diagnose and treat disease. The study assessed the knowledge, attitudes and future expectations of healthcare professionals (HPs) towards PM in Ethiopia. <b>Materials & methods:</b> A cross-sectional survey with primary data and a simple random sampling technique was applied to collect data. <b>Results:</b> Our study revealed from a total of 384 respondents, 98 (25.5%), 146 (38%) and 140 (36.5%) had good, medium and poor knowledge of PM, respectively. However, 172 (44.8%), 185 (48.2%) and 27 (7%) had positive, neutral and negative attitudes towards PM, respectively. <b>Conclusion:</b> Most respondent's future expectations of PM were positive. Education level had a significant association with attitudes and other sociodemographic variables were not significant for both knowledge and attitude.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 5","pages":"483-490"},"PeriodicalIF":2.3,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39324223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01Epub Date: 2021-08-18DOI: 10.2217/pme-2020-0167
Nathalie K Zgheib, Habib El-Khoury, Dimitri Maamari, Maya Basbous, Raya Saab, Samar A Muwakkit
Aim: To evaluate the association between candidate genetic polymorphisms and glucocorticoid-induced osteonecrosis in Arab children treated for acute lymphoblastic leukemia. Methods: A total of 189 children treated for acute lymphoblastic leukemia were genotyped for four SNPs with allele discrimination assays. The incidence and timing of radiologically confirmed symptomatic grade 4 osteonecrosis were classified based on the Ponte di Legno toxicity working group consensus definition. Results: Thirteen children developed grade 4 osteonecrosis (6.8%), of whom 12 received the intermediate/high-risk treatment protocol. GRIN3A variant allele carriers had to stop dexamethasone therapy earlier resulting in significantly shorter duration of dexamethasone treatment (mean [95% CI]: 75.17 [64.28-86.06] vs 85.90 [81.22-90.58] weeks; p = 0.054) and lower cumulative dose (mean [95% CI]: 1118.11 [954.94-1281.29] vs 1341.14 [1264.17-1418.11] mg/m2; p = 0.011). Conclusion: This is the first pharmacogenomics evaluation of the association between GRIN3A variants and glucocorticoid-induced osteonecrosis in Arab children.
目的:探讨阿拉伯儿童急性淋巴细胞白血病患者候选基因多态性与糖皮质激素诱导骨坏死的关系。方法:对189例急性淋巴细胞白血病患儿进行4个snp的等位基因分型。根据Ponte di Legno毒性工作组共识定义,放射学证实的症状性4级骨坏死的发生率和时间进行分类。结果:4级骨坏死患儿13例(6.8%),其中12例接受中高危治疗方案。GRIN3A变异等位基因携带者必须更早停止地塞米松治疗,导致地塞米松治疗持续时间显著缩短(平均[95% CI]: 75.17 [64.28-86.06] vs 85.90[81.22-90.58]周;p = 0.054)和较低的累积剂量(平均[95% CI]: 1118.11 [954.94- 128.29] vs 1341.14 [1264.17-1418.11] mg/m2;p = 0.011)。结论:这是首次对GRIN3A变异与阿拉伯儿童糖皮质激素诱导的骨坏死之间关系的药物基因组学评估。
{"title":"A <i>GRIN3A</i> polymorphism may be associated with glucocorticoid-induced symptomatic osteonecrosis in children with acute lymphoblastic leukemia.","authors":"Nathalie K Zgheib, Habib El-Khoury, Dimitri Maamari, Maya Basbous, Raya Saab, Samar A Muwakkit","doi":"10.2217/pme-2020-0167","DOIUrl":"https://doi.org/10.2217/pme-2020-0167","url":null,"abstract":"<p><p><b>Aim:</b> To evaluate the association between candidate genetic polymorphisms and glucocorticoid-induced osteonecrosis in Arab children treated for acute lymphoblastic leukemia. <b>Methods:</b> A total of 189 children treated for acute lymphoblastic leukemia were genotyped for four SNPs with allele discrimination assays. The incidence and timing of radiologically confirmed symptomatic grade 4 osteonecrosis were classified based on the Ponte di Legno toxicity working group consensus definition. <b>Results:</b> Thirteen children developed grade 4 osteonecrosis (6.8%), of whom 12 received the intermediate/high-risk treatment protocol. <i>GRIN3A</i> variant allele carriers had to stop dexamethasone therapy earlier resulting in significantly shorter duration of dexamethasone treatment (mean [95% CI]: 75.17 [64.28-86.06] vs 85.90 [81.22-90.58] weeks; p = 0.054) and lower cumulative dose (mean [95% CI]: 1118.11 [954.94-1281.29] vs 1341.14 [1264.17-1418.11] mg/m<sup>2;</sup> p = 0.011). <b>Conclusion:</b> This is the first pharmacogenomics evaluation of the association between <i>GRIN3A</i> variants and glucocorticoid-induced osteonecrosis in Arab children.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 5","pages":"431-439"},"PeriodicalIF":2.3,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39324224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01Epub Date: 2021-10-22DOI: 10.2217/pme-2020-0172
Alma Faviola Favela-Mendoza, Brenda Guadalupe Rodríguez-Rodríguez, Eduardo Rojas-Prado, Mariana Chávez-Arreguin, José Alonso Aguilar-Velázquez, Gabriela Martínez-Cortés, Héctor Rangel-Villalobos
Aim: To evaluate the genetic distribution of the rs4149056 and rs2306283 variants in the SLCO1B1 gene in Mexican Mestizo (admixed) and Native American groups. Materials & methods: We recruited 360 volunteers who were qPCR-genotyped with TaqMan probes. Results: Allele and genotype frequencies are reported. Among the expected rs4149056-rs2306283 haplotypes, T-A (42.35-58.47%) was the most prevalent which relates to the normal activity of the OATP1B1 transporter. This was followed by the T-G haplotype associated with further statin transport and cholesterol reduction (32.49-43.76%). Conclusion: Based on these SLCO1B1 gene variants, we confirmed that a minimum fraction of the Mexican study populations would be at risk from decreasing simvastatin transport and the development of statin-induced myopathy.
{"title":"Prevalence of protective haplotypes of the <i>SLCO1B1</i> gene for statin transport in Mexican populations.","authors":"Alma Faviola Favela-Mendoza, Brenda Guadalupe Rodríguez-Rodríguez, Eduardo Rojas-Prado, Mariana Chávez-Arreguin, José Alonso Aguilar-Velázquez, Gabriela Martínez-Cortés, Héctor Rangel-Villalobos","doi":"10.2217/pme-2020-0172","DOIUrl":"https://doi.org/10.2217/pme-2020-0172","url":null,"abstract":"<p><p><b>Aim:</b> To evaluate the genetic distribution of the <i>rs4149056</i> and <i>rs2306283</i> variants in the <i>SLCO1B1</i> gene in Mexican Mestizo (admixed) and Native American groups. <b>Materials & methods:</b> We recruited 360 volunteers who were qPCR-genotyped with TaqMan probes. <b>Results:</b> Allele and genotype frequencies are reported. Among the expected <i>rs4149056</i>-<i>rs2306283</i> haplotypes, T-A (42.35-58.47%) was the most prevalent which relates to the normal activity of the OATP1B1 transporter. This was followed by the T-G haplotype associated with further statin transport and cholesterol reduction (32.49-43.76%). <b>Conclusion:</b> Based on these <i>SLCO1B1</i> gene variants, we confirmed that a minimum fraction of the Mexican study populations would be at risk from decreasing simvastatin transport and the development of statin-induced myopathy.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 6","pages":"533-540"},"PeriodicalIF":2.3,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39540499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01Epub Date: 2021-10-06DOI: 10.2217/pme-2020-0182
Juan Zhang, Xinwei Xu, Min Wang
Aim: This study aimed to evaluate the levels and functions of miR-101-3p in neonatal sepsis (NS). Materials & methods: Quantitative real-time PCR was conducted to investigate the expression of miR-101-3p and the receiver operating characteristic curve was applied to manifest its diagnostic effects. Results:miR-101-3p was increased in the NS patients and the dysregulation of miR-101-3p was associated with levels of procalcitonin, CRP, IL-8 and TNF-α. The combination of miR-101-3p and procalcitonin could function as a promising indicator in distinguishing NS patients. The silenced miR-101-3p reversed the increased levels of TNF-α and IL-8 caused by lipopolysaccharide in vitro. DUSP1 was identified as a direct target gene of miR-101-3p in NS. Conclusion: The abundance of miR-101-3p facilitated the inflammation in NS by targeting DUSP1.
{"title":"Clinical significance of serum <i>miR-101-3p</i> expression in patients with neonatal sepsis.","authors":"Juan Zhang, Xinwei Xu, Min Wang","doi":"10.2217/pme-2020-0182","DOIUrl":"https://doi.org/10.2217/pme-2020-0182","url":null,"abstract":"<p><p><b>Aim:</b> This study aimed to evaluate the levels and functions of <i>miR-101-3p</i> in neonatal sepsis (NS). <b>Materials & methods:</b> Quantitative real-time PCR was conducted to investigate the expression of <i>miR-101-3p</i> and the receiver operating characteristic curve was applied to manifest its diagnostic effects. <b>Results:</b><i>miR-101-3p</i> was increased in the NS patients and the dysregulation of <i>miR-101-3p</i> was associated with levels of procalcitonin, CRP, IL-8 and TNF-α. The combination of <i>miR-101-3p</i> and procalcitonin could function as a promising indicator in distinguishing NS patients. The silenced <i>miR-101-3p</i> reversed the increased levels of TNF-α and IL-8 caused by lipopolysaccharide <i>in vitro</i>. <i>DUSP1</i> was identified as a direct target gene of <i>miR-101-3p</i> in NS. <b>Conclusion:</b> The abundance of <i>miR-101-3p</i> facilitated the inflammation in NS by targeting <i>DUSP1</i>.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 6","pages":"541-550"},"PeriodicalIF":2.3,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39486847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01Epub Date: 2021-10-15DOI: 10.2217/pme-2021-0077
Mohd Arish, Farha Naz
SARS-CoV-2, a recently emerged zoonotic virus, has resulted in unstoppable high morbidity and mortality rates worldwide. However, due to a limited knowledge of the dynamics of the SARS-CoV-2 infection, it has been observed that the current COVID-19 therapy has led to some clinical repercussions. We discuss the adverse effects of drugs for COVID-19 primarily based on some clinical trials. As therapeutic efficacy and toxicity of therapy may vary due to different, genetic determinants, sex, age and the ethnic background of test subjects, hence biomarker-based personalized therapy could be more appropriate. We will share our thoughts on the current landscape of personalized therapy as a roadmap to fight against SARS-CoV-2 or another emerging pathogen.
{"title":"Personalized therapy: can it tame the COVID-19 monster?","authors":"Mohd Arish, Farha Naz","doi":"10.2217/pme-2021-0077","DOIUrl":"10.2217/pme-2021-0077","url":null,"abstract":"<p><p>SARS-CoV-2, a recently emerged zoonotic virus, has resulted in unstoppable high morbidity and mortality rates worldwide. However, due to a limited knowledge of the dynamics of the SARS-CoV-2 infection, it has been observed that the current COVID-19 therapy has led to some clinical repercussions. We discuss the adverse effects of drugs for COVID-19 primarily based on some clinical trials. As therapeutic efficacy and toxicity of therapy may vary due to different, genetic determinants, sex, age and the ethnic background of test subjects, hence biomarker-based personalized therapy could be more appropriate. We will share our thoughts on the current landscape of personalized therapy as a roadmap to fight against SARS-CoV-2 or another emerging pathogen.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 6","pages":"583-593"},"PeriodicalIF":1.7,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39517746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01Epub Date: 2021-08-17DOI: 10.2217/pme-2021-0024
Athanasios Syllaios, Stratigoula Sakellariou, Nikolaos Garmpis, Eleni Sarlani, Christos Damaskos, Konstantinos Apostolou, Stylianos Kykalos, Maria Gazouli, Ioannis Karavokyros, Dimitrios Schizas
miR-101 is downregulated in various types of cancer, leading to the notion that miR-101 acts as a suppressor in cancer cell progression. The comprehensive mechanisms underlying the effects of miR-101 and the exact role of miR-101 dysregulations in esophagogastric tumors have not been fully elucidated. This review aims to summarize all current knowledge on the association between miR-101 expression and esophagogastric malignancies and to clarify the pathogenetic pathways and the possible prognostic and therapeutic role of miR-101 in those cancer types. miR-101 seems to play crucial role in esophageal and gastric cancer biology and tumorigenesis. It could also be a promising novel diagnostic and therapeutic target, as well as it may serve as a significant predictive biomarker in esophagogastric cancer.
{"title":"The role of miR-101 in esophageal and gastric cancer.","authors":"Athanasios Syllaios, Stratigoula Sakellariou, Nikolaos Garmpis, Eleni Sarlani, Christos Damaskos, Konstantinos Apostolou, Stylianos Kykalos, Maria Gazouli, Ioannis Karavokyros, Dimitrios Schizas","doi":"10.2217/pme-2021-0024","DOIUrl":"https://doi.org/10.2217/pme-2021-0024","url":null,"abstract":"<p><p>miR-101 is downregulated in various types of cancer, leading to the notion that miR-101 acts as a suppressor in cancer cell progression. The comprehensive mechanisms underlying the effects of miR-101 and the exact role of miR-101 dysregulations in esophagogastric tumors have not been fully elucidated. This review aims to summarize all current knowledge on the association between miR-101 expression and esophagogastric malignancies and to clarify the pathogenetic pathways and the possible prognostic and therapeutic role of miR-101 in those cancer types. miR-101 seems to play crucial role in esophageal and gastric cancer biology and tumorigenesis. It could also be a promising novel diagnostic and therapeutic target, as well as it may serve as a significant predictive biomarker in esophagogastric cancer.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 5","pages":"491-499"},"PeriodicalIF":2.3,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39318825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The study was carried out to evaluate the association of NQO1 P187S polymorphism in North Indian lung cancer (LC) patients. We determined the effect of this polymorphic variant on the survival of LC patients. Patients & methods/results: This case-control study comprised a total of 1100 subjects. The genotyping was carried out using PCR-RFLP and statistical analysis was carried out. The variant TT genotype exhibited 3.5-fold higher odds in subjects with stage III (p = 0.0006), fivefold higher odds of lymph-node invasion (p = 0.007) and an odd of <1 in case of metastasis (p = 0.0028). Patients possessing TT genotype and administered with paclitaxel, exhibited a poor survival (3.57 vs 12.20 months; hazard ratio = 7.95; p = 0.0098). Conclusion: These results suggest that NQO1 variant genotype was not found to modulate risk toward LC. However, the variant genotype was found to be strongly correlated with stage III LC, lymph node invasion and was found to be positively correlating with metastasis.
{"title":"Association of <i>NQO1Pro187Ser</i> polymorphism with clinical outcomes and survival of lung cancer patients treated with platinum chemotherapy.","authors":"Harleen Kaur Walia, Navneet Singh, Siddharth Sharma","doi":"10.2217/pme-2020-0119","DOIUrl":"https://doi.org/10.2217/pme-2020-0119","url":null,"abstract":"<p><p><b>Background:</b> The study was carried out to evaluate the association of <i>NQO1 P187S</i> polymorphism in North Indian lung cancer (LC) patients. We determined the effect of this polymorphic variant on the survival of LC patients. <b>Patients & methods/results:</b> This case-control study comprised a total of 1100 subjects. The genotyping was carried out using PCR-RFLP and statistical analysis was carried out. The variant TT genotype exhibited 3.5-fold higher odds in subjects with stage III (p = 0.0006), fivefold higher odds of lymph-node invasion (p = 0.007) and an odd of <1 in case of metastasis (p = 0.0028). Patients possessing TT genotype and administered with paclitaxel, exhibited a poor survival (3.57 vs 12.20 months; hazard ratio = 7.95; p = 0.0098). <b>Conclusion:</b> These results suggest that <i>NQO1</i> variant genotype was not found to modulate risk toward LC. However, the variant genotype was found to be strongly correlated with stage III LC, lymph node invasion and was found to be positively correlating with metastasis.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"333-346"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38968766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-07-01Epub Date: 2021-05-11DOI: 10.2217/pme-2021-0023
Martin Eden
Current frameworks & their limitations Decisions have to be made about how to allocate the finite resources available to healthcare systems. Frameworks exist that can aid decisions about whether a new healthcare intervention should be approved for use in a healthcare system. These frameworks are typically underpinned by a formal approach to economic evaluation called cost– effectiveness analysis (CEA) and are primarily driven by the tenet that population health should be maximized. In a CEA, two or more interventions are assessed in terms of their costs and outcomes to determine the relative cost–effectiveness of an intervention compared with its alternatives. To enable comparisons between different types of healthcare interventions in a CEA, it is preferable to use a standard, common outcome measure: the qualityadjusted life-year (QALY). Mortality effects and quality of life attributable to ‘health’ are captured by the QALY with ‘health’ being narrowly defined by the scope of recommended survey tools such as the EQ-5D [1]. Generally speaking, the frameworks have proved useful for resource allocation decision making and have been successfully adopted in a number of jurisdictions across the world. There are, however, specific situations in which QALY-based frameworks, as currently applied, are inadequate. Notably, limitations have been identified where genomic information forms part of a complex intervention, for example, in precision medicine initiatives [2,3]. Interventions which utilize genomic information are complex, in that multiple elements combine to produce multifaceted outcomes. Importantly, these outcomes can extend beyond the confines of ‘health’ as conceptualized in the QALY.
{"title":"Developing new frameworks to value genomic information: accounting for complexity.","authors":"Martin Eden","doi":"10.2217/pme-2021-0023","DOIUrl":"https://doi.org/10.2217/pme-2021-0023","url":null,"abstract":"Current frameworks & their limitations Decisions have to be made about how to allocate the finite resources available to healthcare systems. Frameworks exist that can aid decisions about whether a new healthcare intervention should be approved for use in a healthcare system. These frameworks are typically underpinned by a formal approach to economic evaluation called cost– effectiveness analysis (CEA) and are primarily driven by the tenet that population health should be maximized. In a CEA, two or more interventions are assessed in terms of their costs and outcomes to determine the relative cost–effectiveness of an intervention compared with its alternatives. To enable comparisons between different types of healthcare interventions in a CEA, it is preferable to use a standard, common outcome measure: the qualityadjusted life-year (QALY). Mortality effects and quality of life attributable to ‘health’ are captured by the QALY with ‘health’ being narrowly defined by the scope of recommended survey tools such as the EQ-5D [1]. Generally speaking, the frameworks have proved useful for resource allocation decision making and have been successfully adopted in a number of jurisdictions across the world. There are, however, specific situations in which QALY-based frameworks, as currently applied, are inadequate. Notably, limitations have been identified where genomic information forms part of a complex intervention, for example, in precision medicine initiatives [2,3]. Interventions which utilize genomic information are complex, in that multiple elements combine to produce multifaceted outcomes. Importantly, these outcomes can extend beyond the confines of ‘health’ as conceptualized in the QALY.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"329-332"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e6/c2/pme-18-329.PMC8242980.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38900334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-07-01Epub Date: 2021-06-04DOI: 10.2217/pme-2020-0144
Maria Koromina, Vasileios Fanaras, Gareth Baynam, Christina Mitropoulou, George P Patrinos
Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.
{"title":"Ethics and equity in rare disease research and healthcare.","authors":"Maria Koromina, Vasileios Fanaras, Gareth Baynam, Christina Mitropoulou, George P Patrinos","doi":"10.2217/pme-2020-0144","DOIUrl":"https://doi.org/10.2217/pme-2020-0144","url":null,"abstract":"Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"407-416"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38980372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}