Search

Your search keyword '"Brohet, Richard M."' showing total 39 results
Start Over Author "Brohet, Richard M."
39 results on '"Brohet, Richard M."'

1. Is an Electronic Nose Able to Predict Clinical Response following Neoadjuvant Treatment of Rectal Cancer? A Prospective Pilot Study.

Author

Schoenaker, Ivonne J. H., Pennings, Alexander, van Westreenen, Henderik L., Finnema, Evelyn J., Brohet, Richard M., Hanevelt, Julia, de Vos Tot Nederveen Cappel, Wouter H., and Melenhorst, Jarno

Subjects
ELECTRONIC noses, NEOADJUVANT chemotherapy, MACHINE learning, VOLATILE organic compounds, RECEIVER operating characteristic curves, RECTAL cancer
Abstract

Introduction: A watch-and-wait strategy for patients with rectal cancer who achieve a clinical complete response after neoadjuvant (chemo) radiotherapy is a valuable alternative to rectal resection. In this pilot study, we explored the use of an electronic nose to predict response to neoadjuvant therapy by analyzing breath-derived volatile organic compounds. Materials and Methods: A pilot study was performed between 2020 and 2022 on patients diagnosed with intermediate- or high-risk rectal cancer who were scheduled for neoadjuvant therapy. Breath samples were collected before and after (chemo) radiotherapy. A machine-learning model was developed to predict clinical response using curatively treated rectal cancer patients as controls. Results: For developing the machine-learning model, a total of 99 patients were included: 45 patients with rectal cancer and 54 controls. In the training set, the model successfully discriminated between patients with and without rectal cancer, with a sensitivity and specificity of 0.80 and 0.65, respectively, and an accuracy of 0.72. In the test set, the model predicted partial or (near) complete response with a sensitivity and specificity of 0.64 and 0.47, respectively, and an accuracy of 0.58. The AUC of the ROC curve was 0.63. Conclusions: The prediction model developed in this pilot study lacks the ability to accurately differentiate between partial and (near) complete responders with an electronic nose. Machine-learning studies demand a substantial number of patients and operate in a rapidly evolving field. Therefore, the prevalence of disease and duration of a study are crucial considerations for future research. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

4. A multicentre double-blinded randomized controlled trial on the efficacy of laser-assisted hatching in patients with repeated implantation failure undergoing IVF or ICSI

Author

Curfs, Max H J M, primary, Cohlen, Ben J, additional, Slappendel, Els J, additional, Schoot, Dick C, additional, Derhaag, Josien G, additional, van Golde, Ron J T, additional, van der Heijden, Godfried W, additional, Baart, Esther B, additional, Smeenk, Jesper M J, additional, Ritfeld, Victoria E E G, additional, Brohet, Richard M, additional, and van Bavel, Casandra C A W, additional

Published
2023
Full Text
View/download PDF

5. Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
Full Text
View/download PDF

6. Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
Full Text
View/download PDF

8. Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals’ Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design

Author

Tommel, Judith, primary, Kenis, Daan, additional, Lambrechts, Nathalie, additional, Brohet, Richard M., additional, Swysen, Jordy, additional, Mollen, Lotte, additional, Hoefmans, Marie-José F., additional, Pusparum, Murih, additional, Evers, Andrea W. M., additional, Ertaylan, Gökhan, additional, Roos, Marco, additional, Hens, Kristien, additional, and Houwink, Elisa J. F., additional

Published
2023
Full Text
View/download PDF

9. A multicentre double-blinded randomized controlled trial on the efficacy of laser-assisted hatching in patients with repeated implantation failure undergoing IVF or ICSI

Author

Curfs, Max H. J. M., Cohlen, Ben J., Slappendel, Els J., Schoot, Dick C., Derhaag, Josien G., Golde, R.J.T. van, Heijden, G.W. van der, Brohet, Richard M., Bavel, Casandra C. A. W. van, Curfs, Max H. J. M., Cohlen, Ben J., Slappendel, Els J., Schoot, Dick C., Derhaag, Josien G., Golde, R.J.T. van, Heijden, G.W. van der, Brohet, Richard M., and Bavel, Casandra C. A. W. van

Abstract

Item does not contain fulltext

Published
2023

10. Alteration of the Exhaled Volatile Organic Compound Pattern in Colorectal Cancer Patients after Intentional Curative Surgery—A Prospective Pilot Study

Author

Hanevelt, Julia, Schoenaker, Ivonne J.H., Brohet, Richard M., Schrauwen, Ruud W.M., Baas, Frederique J.N., Tanis, Pieter J., van Westreenen, Henderik L., de Vos tot Nederveen Cappel, Wouter H., Hanevelt, Julia, Schoenaker, Ivonne J.H., Brohet, Richard M., Schrauwen, Ruud W.M., Baas, Frederique J.N., Tanis, Pieter J., van Westreenen, Henderik L., and de Vos tot Nederveen Cappel, Wouter H.

Abstract

As current follow-up modalities for colorectal carcinoma (CRC) have restricted sensitivity, novel diagnostic tools are needed. The presence of CRC changes the endogenous metabolism, resulting in the release of a specific volatile organic compounds (VOC) pattern that can be detected with an electronic nose or AeonoseTM. To evaluate the use of an electronic nose in the follow-up of CRC, we studied the effect of curative surgery on the VOC pattern recognition using AeonoseTM. A prospective cohort study was performed, in which 47 patients diagnosed with CRC were included, all of whom underwent curative surgical resection. Breath testing was performed before and after surgery using the AeonoseTM. A machine learning model was developed by discerning between the 94 pre-and postoperative breath samples. The training model differentiated between the pre-and postoperative CRC breath samples with a sensitivity and specificity of 0.78 (95%CI 0.61–0.90) and 0.73 (95%CI 0.56–0.86), respectively, with an accuracy of 0.76 (95%CI 0.66–0.85), and an area under the curve of 0.79 (95%CI 0.68–0.89). The internal validation of the test set resulted in an accuracy of 0.75 (95%CI 0.51–0.91) and AUC of 0.82 (95%CI 0.61–1). In conclusion, our results suggest that the VOC pattern of CRC patients is altered by curative surgery in a short period, indicating that the exhaled VOCs might be closely related to the presence of CRC. However, to use AeonoseTM as a potential diagnostic tool in the clinical follow-up of CRC patients, the performance of the models needs to be improved through further large-scale prospective research.

Published
2023

11. Possible Value of Faecal Immunochemical Test (FIT) When Added in Symptomatic Patients Referred for Colonoscopy: A Systematic Review

Author

MS MDL 1, Cancer, Brands, Henrike Jacoba, Van Dijk, Brigit, Brohet, Richard M., van Westreenen, Henderik L., de Groot, Jan Willem B., Moons, Leon M.G., de Vos tot Nederveen Cappel, Wouter H., MS MDL 1, Cancer, Brands, Henrike Jacoba, Van Dijk, Brigit, Brohet, Richard M., van Westreenen, Henderik L., de Groot, Jan Willem B., Moons, Leon M.G., and de Vos tot Nederveen Cappel, Wouter H.

Published
2023

12. Association between allergen component sensitisation and clinical allergic disease in children

Author

Brand, Paul L. P., Brohet, Richard M., Schwantje, Olof, Dikkeschei, Lambert D., and Lifelong Learning, Education & Assessment Research Network (LEARN)

Subjects
Pulmonary and Respiratory Medicine, EUROPEAN ACADEMY, SYMPTOMS, sensitisation, Immunology, specific IgE, QUESTIONNAIRE, CHILDHOOD, RHINITIS, General Medicine, respiratory system, allergy, VALIDATION, component-resolved diagnostics, respiratory tract diseases, allergen component sensitisation, children, QUALITY-OF-LIFE, FOOD, immune system diseases, PATTERNS, otorhinolaryngologic diseases, ASTHMA, Immunology and Allergy, IgE
Abstract

Background: Allergen component sensitisation testing is becoming increasingly important in the diagnosis of peanut allergy. The aim of the present study was to evaluate the relationship between sensitisation and symptoms of allergic disease in children by testing a large panel of inhalants, food allergens, and allergen components.Methods: For 287 children visiting our laboratory for allergy testing, symptoms of allergic disease were recorded by standardised validated questionnaires. Specific IgE to 11 whole allergens was assessed by ImmunoCAP, and to 112 allergen components by ISAC ImmunoCAP assay. We used latent class analysis (LCA) to distinguish clinical phenotypes.Results: Inhalant and food allergen sensitisation was common, irrespective of the children's allergic symptom type. Less than 10% of the variance in symptom scores was explained by variations in the number of allergens (components) that the child was sensitised to. In LCA, 135 children (50.2%) had mild allergy, with few symptoms and sensitisation to no or few allergens, 74 children (27.5%) had more symptoms and sensitisation to inhalant allergens (respiratory allergy) and 60 children (22.3%) showed polysensitisation to a median of six allergens and had more severe symptoms of different organ systems. Adding allergen component test results to LCA failed to result in identifiable classes of allergic disease in children.Conclusions: In this group of children with allergic symptoms, referred for allergy testing by their physician, broad screening for allergen component sensitisation did not contribute to distinguishing phenotypes of allergic disease. (C) 2022 Codon Publications. Published by Codon Publications.

Published
2022

14. High Yield of Chest X-ray in the Follow-Up of Colorectal Cancer

Author

Steenhuis, Eline G. M., primary, Schoenaker, Ivonne J. H., additional, De Groot, Jan Willem B., additional, Stigt, Jos A., additional, Reerink, Onne, additional, De Vos tot Nederveen Cappel, Wouter H., additional, Van Westreenen, Henderik L., additional, and Brohet, Richard M., additional

Published
2022
Full Text
View/download PDF

18. Diagnostic value of radiological staging and surveillance for T1 colorectal carcinomas: A multicenter cohort study

Author

Huisman, Jelle F., Dang, Hao, Moons, Leon M. G., Backes, Yara, Dik, Vincent K., Groen, John N., ter Borg, Frank, Bergeijk, Jeroen D., Geesing, Joost M. J., Spanier, B. W. Marcel, Terhaar Sive Droste, Joachim S., Overwater, Anouk, Lelyveld, Niels, Kessels, Koen, Lacle, Miangela M., Offerhaus, G. Johan A., Brohet, Richard M., Knijn, Nikki, Vleggaar, Frank P., Westreenen, Henderik L., Vos tot Nederveen Cappel, Wouter H., and Boonstra, Jurjen J.

Abstract

The role of radiological staging and surveillance imaging is under debate for T1 colorectal cancer (CRC) as the risk of distant metastases is low and imaging may lead to the detection of incidental findings. The aim of this study was to evaluate the yield of radiological staging and surveillance imaging for T1 CRC. In this retrospective multicenter cohort study, all patients of 10 Dutch hospitals with histologically proven T1 CRC who underwent radiological staging in the period 2000–2014 were included. Clinical characteristics, pathological, endoscopic, surgical and imaging reports at baseline and during follow‐up were recorded and analyzed. Patients were classified as high‐risk T1 CRC if at least one of the histological risk factors (lymphovascular invasion, poor tumor differentiation, deep submucosal invasion or positive resection margins) was present and as low‐risk when all risk factors were absent. Of the 628 included patients, 3 (0.5%) had synchronous distant metastases, 13 (2.1%) malignant incidental findings and 129 (20.5%) benign incidental findings at baseline staging. Radiological surveillance was performed among 336 (53.5%) patients. The 5‐year cumulative incidence of distant recurrence, malignant and benign incidental findings were 2.4% (95% confidence interval (CI): 1.1%–5.4%), 2.5% (95% CI: 0.6%–10.4%) and 18.3% (95% CI: 13.4%–24.7%), respectively. No distant metastatic events occurred among low‐risk T1 CRC patients. The risk of synchronous distant metastases and distant recurrence in T1 CRC is low, while there is a substantial risk of detecting incidental findings. Radiological staging seems unnecessary prior to local excision of suspected T1 CRC and after local excision of low‐risk T1 CRC. Radiological surveillance should not be performed in patients with low‐risk T1 CRC.

Published
2023
Full Text
View/download PDF

20. Body weight and risk of breast cancer in BRCA1/2 mutation carriers

Author

Manders, Peggy, Pijpe, Anouk, Hooning, Maartje J., Kluijt, Irma, Vasen, Hans F. A., Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne, Ausems, Margreet G. E. M., van Os, Theo A., Gomez-Garcia, Encarna B., Brohet, Richard M., van Leeuwen, Flora E., Rookus, Matti A., and HEBON

Published
2011
Full Text
View/download PDF

22. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

Author

Brohet, Richard M, Velthuizen, Maria E, Hogervorst, Frans B L, EJ Meijers-Heijboer, Hanne, Seynaeve, Caroline, Collée, Margriet J, Verhoef, Senno, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gómez García, Encarna, Menko, Fred, Oosterwijk, Jan C, Devilee, Peter, Veer, Laura J vanʼt, van Leeuwen, Flora E, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, Rookus, MA, Brohet, RM, Hogervorst, FBL, van Leeuwen, FE, Verhoef, S, Schmidt, MK, de Lange, JL, Collée, JM, van den Ouweland, AMW, Hooning, MJ, Seynaeve, C, van Deurzen, CHM, van Asperen, CJ, Wijnen, JT, Tollenaar, RAEM, Devilee, P, van Cronenburg, TCTEF, Kets, CM, Mensenkamp, AR, Ausems, MGEM, van der Luijt, RB, Aalfs, CM, van Os, TAM, Gille, JJP, Waisfisz, Q, Meijers-Heijboer, HEJ, Gómez-Garcia, EB, Blok, MJ, Oosterwijk, JC, van der Hout, AH, Mourits, MJ, de Bock, GH, and Vasen, HFA

Published
2014
Full Text
View/download PDF

25. The validity of Dutch health claims data for identifying patients with chronic kidney disease: a hospital-based study in the Netherlands.

Author

Oosten, Manon J M van, Brohet, Richard M, Logtenberg, Susan J J, Kramer, Anneke, Dikkeschei, Lambert D, Hemmelder, Marc H, Bilo, Henk J G, Jager, Kitty J, and Stel, Vianda S

Subjects
*CHRONIC kidney failure, *CHRONICALLY ill, *OLDER patients, *GLOMERULAR filtration rate, *ADULTS
Abstract

Background Health claims data may be an efficient and easily accessible source to study chronic kidney disease (CKD) prevalence in a nationwide population. Our aim was to study Dutch claims data for their ability to identify CKD patients in different subgroups. Methods From a laboratory database, we selected 24 895 adults with at least one creatinine measurement in 2014 ordered at an outpatient clinic. Of these, 15 805 had ≥2 creatinine measurements at least 3 months apart and could be assessed for the chronicity criterion. We estimated the validity of a claim-based diagnosis of CKD and advanced CKD. The estimated glomerular filtration rate (eGFR)-based definitions for CKD (eGFR < 60 mL/min/1.73 m2) and advanced CKD (eGFR < 30 mL/min/1.73 m2) satisfying and not satisfying the chronicity criterion served as reference group. Analyses were stratified by age and sex. Results In general, sensitivity of claims data was highest in the population with the chronicity criterion as reference group. Sensitivity was higher in advanced CKD patients than in CKD patients {51% [95% confidence interval (CI) 47–56%] versus 27% [95% CI 25–28%]}. Furthermore, sensitivity was higher in young versus elderly patients. In patients with advanced CKD, sensitivity was 72% (95% CI 62–83%) for patients aged 20–59 years and 43% (95% CI 38–49%) in patients ≥75 years. The specificity of CKD and advanced CKD was ≥99%. Positive predictive values ranged from 72% to 99% and negative predictive values ranged from 40% to 100%. Conclusion When using health claims data for the estimation of CKD prevalence, it is important to take into account the characteristics of the population at hand. The younger the subjects and the more advanced the stage of CKD the higher the sensitivity of such data. Understanding which patients are selected using health claims data is crucial for a correct interpretation of study results. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

27. Relationship between clinical outcomes and Dutch frailty score among elderly patients who underwent surgery for hip fracture

Author

Winters,A Marian, Hartog,Laura C, Roijen,Hilde IF, Brohet,Richard M, Kamper,Adriaan M, Winters,A Marian, Hartog,Laura C, Roijen,Hilde IF, Brohet,Richard M, and Kamper,Adriaan M

Abstract

AM Winters,1 LC Hartog,2 HIF Roijen,1 RM Brohet,3 AM Kamper1 1Department of Geriatrics, Isala, 8025 AB, Zwolle, the Netherlands; 2Diabetes Centre, Isala, 8025 AB, Zwolle, the Netherlands; 3Isala Academy, 8025 BP, Zwolle, the Netherlands Background: Frailty is a geriatric condition that is associated with an increased risk of mortality and functional decline. To date, mainly the Groningen Frailty Indicator (GFI) and Hospital Safety Management (VeiligheidsManagementSysteem [VMS]) frailty score are used to determine frailty in several hospitals in the Netherlands. However, it is yet unknown, which method has the best predictive value on clinical outcomes.Objective: The aim of this study was to investigate the predictive value of GFI and VMS on clinical outcomes among patients who underwent hip fracture surgery.Design: This is a prospective observational cohort study.Methods: We selected all patients aged 70 years or higher, who underwent hip fracture surgery in our general hospital, between November 2014 and November 2015. Among all patients, VMS, GFI and Barthel-20 index (BI) were assessed. McNemar’s paired test and Cohen’s κ were used to examine the difference and the level of agreement between the two scoring methods. Kaplan–Meier and multivariable regression analyses were performed to determine overall survival and mortality, respectively, 3 years and 30 days after surgery.Results: A total of 280 patients were included in the study. The median follow-up was 25 months. No systematic difference was found between the two methods (P=0.237), while a fair level of agreement could be measured (κ=0.363 [95% CI =0.23–50]). VMS showed a statistically significant difference in overall survival as compared to nonfrail patients (57 vs 80%, respectively [Plogrank <0.001] with an HR of 3.5 [95% CI =2.1–5.7; P<0.001]). Classification according to GFI yielded a lo

Published
2018

30. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

Author

ten Broeke, Sanne W., primary, Brohet, Richard M., additional, Tops, Carli M., additional, van der Klift, Heleen M., additional, Velthuizen, Mary E., additional, Bernstein, Inge, additional, Capellá Munar, Gabriel, additional, Gomez Garcia, Encarna, additional, Hoogerbrugge, Nicoline, additional, Letteboer, Tom G.W., additional, Menko, Fred H., additional, Lindblom, Annika, additional, Mensenkamp, Arjen R., additional, Moller, Pal, additional, van Os, Theo A., additional, Rahner, Nils, additional, Redeker, Bert J.W., additional, Sijmons, Rolf H., additional, Spruijt, Liesbeth, additional, Suerink, Manon, additional, Vos, Yvonne J., additional, Wagner, Anja, additional, Hes, Frederik J., additional, Vasen, Hans F., additional, Nielsen, Maartje, additional, and Wijnen, Juul T., additional

Published
2015
Full Text
View/download PDF

34. Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

Author

Wijnen, Juul T., primary, Brohet, Richard M., additional, van Eijk, Ronald, additional, Jagmohan–Changur, Shanty, additional, Middeldorp, Anneke, additional, Tops, Carli M., additional, van Puijenbroek, Mario, additional, Ausems, Margreet G.E.M., additional, Gómez García, Encarna, additional, Hes, Frederik J., additional, Hoogerbrugge, Nicoline, additional, Menko, Fred H., additional, van Os, Theo A.M., additional, Sijmons, Rolf H., additional, Verhoef, Senno, additional, Wagner, Anja, additional, Nagengast, Fokko M., additional, Kleibeuker, Jan H., additional, Devilee, Peter, additional, Morreau, Hans, additional, Goldgar, David, additional, Tomlinson, Ian P., additional, Houlston, Richard S., additional, van Wezel, Tom, additional, and Vasen, Hans F.A., additional

Published
2009
Full Text
View/download PDF

35. In Reply

Author

Brohet, Richard M., primary, Van Leeuwen, Flora E., additional, Rookus, Matti A., additional, Goldgar, David E., additional, Easton, Douglas F., additional, Antoniou, Antonis C., additional, Andrieu, Nadine, additional, and Chang-Claude, Jenny, additional

Published
2007
Full Text
View/download PDF

36. Oral Contraceptives and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study: A Report From EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

Author

Brohet, Richard M., primary, Goldgar, David E., additional, Easton, Douglas F., additional, Antoniou, Antonis C., additional, Andrieu, Nadine, additional, Chang-Claude, Jenny, additional, Peock, Susan, additional, Eeles, Rosalind A., additional, Cook, Margaret, additional, Chu, Carol, additional, Noguès, Catherine, additional, Lasset, Christine, additional, Berthet, Pascaline, additional, Meijers-Heijboer, Hanne, additional, Gerdes, Anne-Marie, additional, Olsson, Håkan, additional, Caldes, Trinidad, additional, van Leeuwen, Flora E., additional, and Rookus, Matti A., additional

Published
2007
Full Text
View/download PDF

37. Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands.

Author

Vos, Janet R., Teixeira, Natalia, van der Kolk, Dorina M., Mourits, Marian J. E., Rookus, Matti A., van Leeuwen, Flora E., Collée, Margriet, van Asperen, Christi J., Mensenkamp, Arjen R., Ausems, Margreet G. E. M., van Os, Theo A. M., Meijers-Heijboer, Hanne E. J., Gómez-Garcia, Encarna B., Vasen, Hans F., Brohet, Richard M., van der Hout, Annemarie H., Jansen, Liesbeth, Oosterwijk, Jan C., and de Bock, Geertruida H.

Abstract

The article presents research that aims to observed whether cancer risks in BRCA2 mutation carriers older than 60 years in the Northern Netherlands could be explained by mutation spectrum. It informs that study included all known pathogenic BRCA1 and BRCA2 carriers in the Northern Netherlands and regional differences were assessed. The result showed that all BRCA 1 and BRCA2 carriers younger than 60 years had a lower breast cancer risk.

Published
2014
Full Text
View/download PDF

39. Personal genomes in practice : exploring citizen and healthcare professionals’ perspectives on personalized genomic medicine and personal health data spaces using a mixed-methods design

Author

Judith Tommel, Daan Kenis, Nathalie Lambrechts, Richard M. Brohet, Jordy Swysen, Lotte Mollen, Marie-José F. Hoefmans, Murih Pusparum, Andrea W. M. Evers, Gökhan Ertaylan, Marco Roos, Kristien Hens, Elisa J. F. Houwink, Kenis, Daan/0000-0002-3105-8251, Pusparum, Murih/0000-0001-9560-0612, Brohet, Richard/0000-0003-4472-9322, Lambrechts, Nathalie/0000-0003-1896-0483, Hens, Kristien/0000-0003-1062-7918, Tommel, Judith, Kenis , Daan, Lambrechts, Nathalie, Brohet, Richard M., Swysen, Jordy, Mollen, Lotte, Hoefmans, Marie-Jose F., PUSPARUM, Murih, Evers, Andrea W. M., Ertaylan, Goekhan, Roos, Marco, Hens, Kristien, and Houwink, Elisa J. F.

Subjects
mixed-methods, Health Personnel, mixed-methodspersonal health data space, The Netherlands, Genomics, personalized medicine, ethics, genomic medicine, personal health data space, genetic data, Belgium, Philosophy, Genetics, Humans, Human medicine, Delivery of Health Care, Ecosystem, Genetics (clinical)
Abstract

Ongoing health challenges, such as the increased global burden of chronic disease, are increasingly answered by calls for personalized approaches to healthcare. Genomic medicine, a vital component of these personalization strategies, is applied in risk assessment, prevention, prognostication, and therapeutic targeting. However, several practical, ethical, and technological challenges remain. Across Europe, Personal Health Data Space (PHDS) projects are under development aiming to establish patient-centered, interoperable data ecosystems balancing data access, control, and use for individual citizens to complement the research and commercial focus of the European Health Data Space provisions. The current study explores healthcare users' and health care professionals' perspectives on personalized genomic medicine and PHDS solutions, in casu the Personal Genetic Locker (PGL). A mixed-methods design was used, including surveys, interviews, and focus groups. Several meta-themes were generated from the data: (i) participants were interested in genomic information; (ii) participants valued data control, robust infrastructure, and sharing data with non-commercial stakeholders; (iii) autonomy was a central concern for all participants; (iv) institutional and interpersonal trust were highly significant for genomic medicine; and (v) participants encouraged the implementation of PHDSs since PHDSs were thought to promote the use of genomic data and enhance patients' control over their data. To conclude, we formulated several facilitators to implement genomic medicine in healthcare based on the perspectives of a diverse set of stakeholders. The PGL project was funded by a DATA2PERSON grant from the Dutch Research Council (NWO), with grant ID 628.011.022. D.K. is funded by Research Foundation—Flanders (FWO) under Grant predoctoral Fellowship fundamental research (1112423N). We would like to thank all participants for their participation in the study. Additionally, we thank Leo Geudens, Greet Ieven, Bettina Blaumeiser, and Isabelle Huys for additional support in the IAM Frontier study. Regarding the PGL focus group study, we thank the designers from Ontwerpbureau Evers + de Gier for designing the clickable mock-up PGL; Milon van Vliet for her help as an observer during focus group sessions; Rick Overkleeft, Sander van Boom, Arthur Schreuder, Jesse Swen, Johan den Dunnen, and Guido van ‘t Noordende for their help in developing the interview protocol and topic list; and all other members involved in the PGL project.

Published
2023

Catalog

Books, media, physical & digital resources
See catalog results