Article
Pharmacology & Pharmacy
Maria Celsa Pena-Martin, Belen Garcia-Berrocal, Almudena Sanchez-Martin, Elena Marcos-Vadillo, Maria Jesus Garcia-Salgado, Santiago Sanchez, Carolina Lorenzo, David Gonzalez-Parra, Francisco Sans, Manuel Franco, Andrea Gaedigk, Maria Jose Mateos-Sexmero, Catalina Sanz, Maria Isidoro-Garcia
Summary: Precision medicine utilizing genetic information improves drug efficacy and reduces adverse events. Polypharmacy is common, but precision medicine can increase drug safety. The article shares ten years of experience and presents a five-step precision medicine protocol, highlighting clinical relevance through case studies.
Article
Medicine, General & Internal
Scott R. Walter, Joni Jackson, Gareth Myring, Maria Theresa Redaniel, Ruta Margelyte, Rebecca Gardiner, Michael D. Clarke, Megan Crofts, Hugh McLeod, William Hollingworth, David Phillips, Peter Muir, Jonathan Steer, Jonathan Turner, Paddy J. Horner, Frank De Vocht
Summary: This study evaluated the impact of a new clinic-based rapid sexually transmitted infection testing, diagnosis and treatment service on healthcare delivery and resource needs. The results showed that the introduction of the clinic-based testing system significantly reduced the time-to-notification and the rate of gonorrhoea swabs, and overall service costs decreased by 7.5%. These findings support the widespread implementation of clinic-based testing in sexual health services.
Article
Health Care Sciences & Services
Andrew A. Dwyer, Melissa K. Uveges, Samantha Dockray, Neil Smith
Summary: Patients with rare diseases are motivated by altruism when pursuing genetic testing, but lack decisional support and counseling. Patient values, beliefs, and experiences can inform more person-centered approaches to genetic testing for rare diseases.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Medicine, General & Internal
Robert G. Mannino, Santiago Arconada J. Alvarez, Morgan Greenleaf, Maren Parsell, Comfort Mwalija, Wilbur A. Lam
Summary: With the rapid advancement in technology, mobile app solutions have the potential to solve patient issues and transform clinical research in modern medicine. However, a lack of knowledge among clinicians and biomedical researchers often hinders the development of successful medical apps. This report provides insights and best practices for designing, developing, and launching medical apps, bridging the gap between clinical expertise and mobile app development skills.
Article
Genetics & Heredity
Veronica Latapiat, Mauricio Saez, Inti Pedroso, Alberto J. M. Martin
Summary: Individualized networks are a novel strategy for studying complex diseases and advancing precision medicine by stratifying patients. These networks consider the impact of interpatient heterogeneity caused by genetic and environmental factors, and improve our ability to develop treatments and enhance diagnostics.
FRONTIERS IN GENETICS
(2023)
Article
Obstetrics & Gynecology
Ernesto Bosch
Summary: The debate around standardization of practice versus individualized care exists in the field of infertility. The available evidence is not strong enough to clearly state which approach is superior. Challenges include inadequate treatment for infertile patients, fear of adverse events, and financial reasons.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Public, Environmental & Occupational Health
Rui Fu, Vivian Ng, Michael Liu, David Wells, Emre Yurga, Eric Nauenberg
Summary: This paper suggests supplementing the evaluation of cost-effectiveness of health interventions with an additional assessment focusing solely on the patient perspective. It presents five categories where a patient-centered analysis may be informative and discusses how to incorporate patient inputs to improve decision-making that prioritizes patients.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Otorhinolaryngology
Maarten C. C. Dorr, Eleni-Rosalina Andrinopoulou, Aniel Sewnaik, Diako Berzenji, Kira S. S. van Hof, Emilie A. C. Dronkers, Simone E. E. Bernard, Arta Hoesseini, Dimitirs Rizopoulos, Robert J. Baatenburg J. de Jong, Marinella P. J. Offerman
Summary: This study aims to develop an individualized dynamic prediction model for patient-reported voice quality. The study found that the model can provide individualized predictions at every time point and can be used throughout the follow-up period. Increasing the number of measurements during prediction improves predictive performance, while adding more clinical and demographic variables does not provide better predictions.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Endocrinology & Metabolism
Reena Perchard, Philip George Murray, Peter Ellis Clayton
Summary: The evaluation of short children involves determining whether growth parameters are abnormal and conducting system and hormonal tests, as well as more targeted testing. Genetic analysis may be necessary for children whose diagnosis remains unclear. New genetic causes for short stature are continuously being discovered, expanding the clinical spectrum for known genes. The establishment of an international repository for short stature conditions is recommended for dissemination of knowledge and defining clinical spectrum.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Health Care Sciences & Services
Arian Mansur, Fang Zhang, Christine Y. Lu
Summary: Genetic testing and counseling are important for patient care, but the uptake of these services for colorectal cancer risk is low, particularly among uninsured individuals. Insurance coverage plays a significant role in accessing genetic testing and counseling.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Endocrinology & Metabolism
Ronald Ching Wan Ma, Fangying Xie, Cadmon King Poo Lim, Eric Siu Him Lau, Andrea On Yan Luk, Risa Ozaki, Grace Pui Yiu Cheung, Heung Man Lee, Alex Chi Wai Ng, Heung Wing Li, Carmen Ka Man Wong, Samuel Yeung Shan Wong, Wing Yee So, Juliana Chung Ngor Chan
Summary: This study evaluated the impact of personalized risk counseling incorporating clinical and genetic risk factors on patients with diabetes. The results showed that both the control group and genetic counseling group saw an increase in the proportion of patients reaching treatment targets, but there was no significant difference between the two groups. However, the genetic counseling group showed higher levels of diabetes empowerment and reduced distress.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2022)
Article
Medicine, General & Internal
Marsa Gholamzadeh, Reza Safdari, Shahideh Amini, Hamidreza Abtahi
Summary: This study aims to investigate experts' views on the needs and main aspects of telecare programmes for lung transplantation. Through qualitative research and thematic analysis, the key features and prerequisites of a telecare programme for lung transplant patients were extracted, and the barriers and benefits of using a telecare system to enhance the quality of care were determined.
Article
Health Care Sciences & Services
Derek S. Brown, Mithuna Srinivasan, Lucas Arbulu, Prashila Dullabh, Kamisha Curtis, Courney Zott, Scott R. Smith
Summary: This study assessed the coverage and gaps in federally funded data for patient-centered outcomes research (PCOR) economic evaluations. It identified several types of costs relevant for PCOR and found that while the existing federal data infrastructure captures many areas of the economic burden of health and healthcare, there are still gaps.
Article
Genetics & Heredity
Islam Salikhanov, Karl Heinimann, Pierre Chappuis, Nicole Buerki, Rossella Graffeo, Viola Heinzelmann, Manuela Rabaglio, Monica Taborelli, Simon Wieser, Maria C. Katapodi
Summary: This study evaluated the cost-effectiveness of universal DNA screening for Lynch syndrome among colorectal cancer patients in Switzerland. The results showed that universal DNA testing can effectively prevent LS-related deaths and CRC cases, and is cost-effective according to Swiss standards. Sensitivity analysis revealed that the cost of DNA testing and number of invited relatives per LS case are key factors influencing the cost-effectiveness ratio.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Pediatrics
Thomas Hays, Ronald J. Wapner
Summary: Many perinatal disorders are caused by genetic diseases, which can be diagnosed using exome sequencing or genome sequencing. Having a specific genetic diagnosis can improve clinical care and outcomes for these patients. Further research and advancements in genetic testing technology will continue to enhance its clinical utility.
CURRENT OPINION IN PEDIATRICS
(2021)