Personalized medicinePub Date : 2021-07-01Epub Date: 2021-06-04DOI: 10.2217/pme-2020-0155
Eva Van Steijvoort, Heleen Devolder, Inne Geysen, Silke Van Epperzeel, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
{"title":"Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women.","authors":"Eva Van Steijvoort, Heleen Devolder, Inne Geysen, Silke Van Epperzeel, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry","doi":"10.2217/pme-2020-0155","DOIUrl":"https://doi.org/10.2217/pme-2020-0155","url":null,"abstract":"<p><p><b>Aim:</b> Despite a considerable interest in expanded carrier screening (ECS) in the general population, actual uptake of ECS remains low. More insights are needed to better understand the perspectives of reproductive-aged individuals. <b>Materials & methods:</b> Nonpregnant women of reproductive age recruited through public pharmacies throughout Flanders (Belgium) were invited to participate in an online survey. <b>Results:</b> Most participants (63.6%) indicated they would consider ECS for themselves in the future. About one in two participants showed a positive attitude toward ECS. <b>Conclusion:</b> This study reports valuable insights in the perspectives of nonpregnant reproductive-aged women in Flanders (Belgium) regarding ECS that can be used in the ongoing debate on the responsible implementation of ECS.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"361-373"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38980912","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}
Personalized medicinePub Date : 2021-07-01Epub Date: 2021-05-28DOI: 10.2217/pme-2020-0166
Lyndonna Marrast, Joseph Conigliaro, Camille Chan, Eun Ji Kim, Joan Duer-Hefele, Michael A Diefenbach, Karina W Davidson
{"title":"Racial and ethnic minority patient participation in N-of-1 trials: perspectives of healthcare providers and patients.","authors":"Lyndonna Marrast, Joseph Conigliaro, Camille Chan, Eun Ji Kim, Joan Duer-Hefele, Michael A Diefenbach, Karina W Davidson","doi":"10.2217/pme-2020-0166","DOIUrl":"https://doi.org/10.2217/pme-2020-0166","url":null,"abstract":"<p><p><b>Aim:</b> Patients from racial and ethnic minority backgrounds in the USA have historically been under-represented in research trials. Understanding their viewpoints regarding participation in N-of-1 trials is imperative as we design and implement these studies. <b>Materials & methods:</b> We conducted six focus groups of racial and ethnic minority patients (n = 25) and providers (n = 9). We used content analysis to identify themes. <b>Results:</b> Our results noted the importance of considering family members in N-of-1 trial recruitment and participation, patients' desire for education as a design feature, for 'lifestyle' changes as a treatment option and for use of nonevidence-based treatments in the design of future N-of-1 trials. <b>Conclusion:</b> Personalized trials have the potential to change the way we deliver primary care and improve disparities for minorities.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"347-359"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8242982/pdf/pme-18-347.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39026048","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}
Personalized medicinePub Date : 2021-07-01Epub Date: 2021-04-01DOI: 10.2217/pme-2020-0012
Can Chen, Yi Zong, Jiaojiao Tang, Ruisheng Ke, Lizhi Lv, Mengchao Wu, Junhua Lu
{"title":"miR-369-3p serves as prognostic factor and regulates cancer progression of hepatocellular carcinoma.","authors":"Can Chen, Yi Zong, Jiaojiao Tang, Ruisheng Ke, Lizhi Lv, Mengchao Wu, Junhua Lu","doi":"10.2217/pme-2020-0012","DOIUrl":"https://doi.org/10.2217/pme-2020-0012","url":null,"abstract":"<p><p><b>Background:</b> The aim of this study was to investigate the role of miR-369-3p in hepatocellular carcinoma (HCC). <b>Materials & methods:</b> The expression levels of miR-369-3p were detected using the quantitative real-time reverse transcription-PCR analysis. The cell counting kit-8 and transwell assays were used to explore the effects of miR-369-3p on cell proliferation, migration and invasion of HCC cells. <b>Results:</b> The miR-369-3p expression was downregulated in HCC tissues and cell lines, in comparison to the normal controls, respectively. <i>In vitro</i>, overexpression of miR-369-3p in Hep 3B and Huh7 cells inhibited cell proliferation, migration and invasion. SOX4 was a direct target of miR-369-3p. <b>Conclusion:</b> Our results suggested that miR-369-3p may be a tumor suppressor in HCC by targeting SOX4.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"375-388"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25537649","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}
Personalized medicinePub Date : 2021-07-01Epub Date: 2021-05-11DOI: 10.2217/pme-2020-0120
Amalia M Issa, Sarah Ae Aboushawareb, David D Eisenstat, Greg Mt Guilcher, Geoffrey Liu, S Rod Rassekh, Caron Strahlendorf, Gesche Tallen, Reo Tanoshima, Bruce Carleton
{"title":"Deliberations about clinical pharmacogenetic testing in pediatric oncology.","authors":"Amalia M Issa, Sarah Ae Aboushawareb, David D Eisenstat, Greg Mt Guilcher, Geoffrey Liu, S Rod Rassekh, Caron Strahlendorf, Gesche Tallen, Reo Tanoshima, Bruce Carleton","doi":"10.2217/pme-2020-0120","DOIUrl":"https://doi.org/10.2217/pme-2020-0120","url":null,"abstract":"<p><p>This article summarizes the background, content and outcomes of a special meeting that was convened among oncologists and scientists to discuss the role of pharmacogenetic (PGx) testing in pediatric clinical oncology practice. This meeting provided an opportunity for what the lead author (AM Issa) refers to as the 'voice of the clinician' dynamic to be amplified in order to better understand how personalized or precision medicine applications such as PGx testing are adopted and incorporated into clinical settings and what we can learn from the experiences of current and ongoing implementation PGx approaches to further the implementation of precision medicine applications in real-world environments. Group dynamics and clinical experience with PGx testing and return of results shaped the discussion.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"399-405"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38968764","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}
Personalized medicinePub Date : 2021-07-01Epub Date: 2021-06-04DOI: 10.2217/pme-2020-0183
Manik Vohra, Anu Radha Sharma, Kapaettu Satyamoorthy, Padmalatha S Rai
{"title":"Pharmacogenomic considerations for repurposing of dexamethasone as a potential drug against SARS-CoV-2 infection.","authors":"Manik Vohra, Anu Radha Sharma, Kapaettu Satyamoorthy, Padmalatha S Rai","doi":"10.2217/pme-2020-0183","DOIUrl":"10.2217/pme-2020-0183","url":null,"abstract":"<p><p>Immunomodulatory and analgesic effects of dexamethasone are clinically well established, and this synthetic corticosteroid acts as an agonist of glucocorticoid receptors. Early results of the RECOVERY Trial from the United Kingdom and others suggest certain benefits of dexamethasone against COVID-19 chronic patients. The efforts have been acknowledged by World Health Organization with an interim guideline to use in patients with a severe and critical illness. The inherent genetic variations in genes such as <i>CYP3A5</i>, <i>NR3C1</i>, <i>NR3C2</i>, etc., involved in the pharmacokinetic and pharmacodynamic processes may influence dexamethasone's effects as an anti-inflammatory drug. Besides, the drug may influence transcriptome or metabolic changes in the individuals. In the present review, we summarize the reported genetic variations that impact dexamethasone response and discuss dexamethasone-induced changes in transcriptome and metabolome that may influence potential treatment outcome against COVID-19.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 4","pages":"389-398"},"PeriodicalIF":2.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39061929","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}
Personalized medicinePub Date : 2021-05-01Epub Date: 2021-03-17DOI: 10.2217/pme-2020-0083
Beatriz Manzor Mitrzyk, Melissa A Plegue, Reema Kadri, Shivang U Danak, Joseph D Hubbard, Emily A Kaip, Dana N Roberson, Vicki L Ellingrod, Karen B Farris, Mack T Ruffin, Michael S Klinkman, Lorraine R Buis
{"title":"Pharmacogenomic testing for mental health (Part I): documenting early adopter perceptions of use for eight scenarios.","authors":"Beatriz Manzor Mitrzyk, Melissa A Plegue, Reema Kadri, Shivang U Danak, Joseph D Hubbard, Emily A Kaip, Dana N Roberson, Vicki L Ellingrod, Karen B Farris, Mack T Ruffin, Michael S Klinkman, Lorraine R Buis","doi":"10.2217/pme-2020-0083","DOIUrl":"https://doi.org/10.2217/pme-2020-0083","url":null,"abstract":"<p><p><b>Aim:</b> We sought to understand how early adopters used pharmacogenomic (PGx) testing for treating depression and attention deficient hyperactivity disorder (ADHD). <b>Patients & methods:</b> We conducted a phone survey with prescribers who had previously ordered an <i>Informed PGx</i> (Progenity, Inc., MI, USA) test. <b>Results:</b> We identified 1037 prescribers in our sampling period. Respondents (n = 64) were predominantly female (61.5%) and in pediatrics (n = 42; 64.6%). PGx testing was used for multiple scenarios (mean 3.3 ± 1.6); the most common was after no response to medication was observed (80%; 51/64). Most respondents state that test results typically reveal an altered metabolizer status. <b>Conclusion:</b> PGx test results ordered by early adopters often reveal altered metabolizers which leads them to change the depression/ADHD medication regimen. Future work should evaluate the clinical utility of PGx testing for depression/ADHD treatment.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 3","pages":"223-232"},"PeriodicalIF":2.3,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25486166","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}
Personalized medicinePub Date : 2021-05-01Epub Date: 2021-03-17DOI: 10.2217/pme-2020-0084
Beatriz Manzor Mitrzyk, Melissa A Plegue, Reema Kadri, Shivang U Danak, Joseph D Hubbard, Emily A Kaip, Dana N Roberson, Souvik Roy, Timothy C Guetterman, Vicki L Ellingrod, Karen B Farris, Mack T Ruffin Iv, Michael S Klinkman, Lorraine R Buis
{"title":"Pharmacogenomic testing for mental health (Part II): qualitative analysis of early adopter prescriber perceptions.","authors":"Beatriz Manzor Mitrzyk, Melissa A Plegue, Reema Kadri, Shivang U Danak, Joseph D Hubbard, Emily A Kaip, Dana N Roberson, Souvik Roy, Timothy C Guetterman, Vicki L Ellingrod, Karen B Farris, Mack T Ruffin Iv, Michael S Klinkman, Lorraine R Buis","doi":"10.2217/pme-2020-0084","DOIUrl":"https://doi.org/10.2217/pme-2020-0084","url":null,"abstract":"<p><p><b>Aim:</b> We sought to explore how early adopters use pharmacogenomic (PGx) testing for treating depression and attention-deficit/hyperactivity disorder. <b>Patients & methods:</b> Prescribers of the <i>Informed PGx</i> (Progenity, Inc., Ann Arbor, MI 48108, USA) test completed a phone survey assessing use of PGx testing for different scenarios. We conducted a qualitative thematic text analysis of transcribed audio recordings of open-ended responses (n = 62). <b>Results:</b> PGx testing was used when treating multiple comorbidities or resistant disease, and to ease patients' concerns with future therapy. Use of PGx testing is influenced by insurance coverage, interpretability of results and results turnaround time. <b>Conclusion:</b> Prescribers used PGx tests to modify medications for complex patients with depression, attention-deficit/hyperactivity disorder and other disorders to alleviate concerns related to adverse effects and lack of effectiveness.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 3","pages":"233-240"},"PeriodicalIF":2.3,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25486470","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}
Personalized medicinePub Date : 2021-05-01Epub Date: 2021-03-17DOI: 10.2217/pme-2021-0016
Hadley Stevens Smith, Amy L McGuire, Eve Wittenberg, Tara A Lavelle
{"title":"Family-level impact of genetic testing: integrating health economics and ethical, legal, and social implications.","authors":"Hadley Stevens Smith, Amy L McGuire, Eve Wittenberg, Tara A Lavelle","doi":"10.2217/pme-2021-0016","DOIUrl":"https://doi.org/10.2217/pme-2021-0016","url":null,"abstract":"<p><p>Tweetable abstract Health economics and ELSI can be better integrated to consider the family impacts of genetic and genomic testing.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 3","pages":"209-212"},"PeriodicalIF":2.3,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488502/pdf/pme-18-209.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25486115","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}
Personalized medicinePub Date : 2021-05-01Epub Date: 2021-04-07DOI: 10.2217/pme-2020-0161
Michael A Lensink, Sarah N Boers, Vincent A M Gulmans, Karin R Jongsma, Annelien L Bredenoord
{"title":"Mini-gut feelings: perspectives of people with cystic fibrosis on the ethics and governance of organoid biobanking.","authors":"Michael A Lensink, Sarah N Boers, Vincent A M Gulmans, Karin R Jongsma, Annelien L Bredenoord","doi":"10.2217/pme-2020-0161","DOIUrl":"https://doi.org/10.2217/pme-2020-0161","url":null,"abstract":"<p><p><b>Aim:</b> Organoid technology has enormous potential for precision medicine, such as has recently been demonstrated in the field of cystic fibrosis. However, storage and use of organoids has been associated with ethical challenges and there is currently a lack of harmony in regulation and guidelines to govern the rapid emergence of 'organoid medicine'. Developing sound governance demands incorporation of the perspectives of patients as key stakeholders. <b>Materials & methods:</b> We conducted 17 semi-structured interviews with people with cystic fibrosis to explore their perspectives on the ethics and governance of organoid biobanking. <b>Results:</b> We identified three themes: prioritization of research and trust, ambivalent views on commercial involvement and transparency and control. <b>Conclusion:</b> Our study offers important insights for ethically robust governance of 'organoid medicine'.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 3","pages":"241-254"},"PeriodicalIF":2.3,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25577500","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}
Personalized medicinePub Date : 2021-05-01Epub Date: 2021-03-31DOI: 10.2217/pme-2020-0107
Youssef M Roman, Kajua Lor, Txia Xiong, Kathleen Culhane-Pera, Robert J Straka
{"title":"Gout prevalence in the Hmong: a prime example of health disparity and the role of community-based genetic research.","authors":"Youssef M Roman, Kajua Lor, Txia Xiong, Kathleen Culhane-Pera, Robert J Straka","doi":"10.2217/pme-2020-0107","DOIUrl":"https://doi.org/10.2217/pme-2020-0107","url":null,"abstract":"<p><p>Individuals of distinct Asian backgrounds are commonly aggregated as Asian, which could mask the differences in the etiology and prevalence of health conditions in the different Asian subgroups. The Hmong are a growing Asian subgroup in the United States with a higher prevalence of gout and gout-related comorbidities than non-Hmong. Genetic explorations in the Hmong suggest a higher prevalence of genetic polymorphisms associated with an increased risk of hyperuricemia and gout. History of immigration, acculturation, lifestyle factors, including dietary and social behavioral patterns, and the use of traditional medicines in the Hmong community may also increase the risk of developing gout and lead to poor gout management outcomes. Engaging minorities such as the Hmong population in biomedical research is a needed step to reduce the burden of health disparities within their respective communities, increase diversity in genomic studies, and accelerate the adoption of precision medicine to clinical practice.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"18 3","pages":"311-327"},"PeriodicalIF":2.3,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25533269","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}