Article
Public, Environmental & Occupational Health
Amanda S. Freed, Inga Gruss, Carmit K. McMullen, Michael C. Leo, Tia L. Kauffman, Kathryn M. Porter, Kristin R. Muessig, Donna Eubanks, Katrina A. B. Goddard, Benjamin S. Wilfond, Elizabeth G. Liles
Summary: The study describes the development of a web-based decision aid to assist patients and research participants in making informed, values-based decisions about receiving additional results from genomic sequencing. The decision aid, called ORCA, was found to be highly readable and relevant in alpha testing, supporting informed decision making.
PATIENT EDUCATION AND COUNSELING
(2021)
Article
Genetics & Heredity
Monica H. Wojcik, Maya C. del Rosario, Pankaj B. Agrawal
Summary: A survey of neonatologists across the United States revealed that while most acknowledge the importance of genetic testing for their patients, availability of genetic consultations and exome or genome sequencing in NICUs is not always adequate.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Elizabeth G. Liles, Michael C. Leo, Amanda S. Freed, Kathryn M. Porter, Jamilyn M. Zepp, Tia L. Kauffman, Erin Keast, Carmit K. McMullen, Inga Gruss, Barbara B. Biesecker, Kristin R. Muessig, Donna J. Eubanks, Laura M. Amendola, Michael O. Dorschner, Bradley A. Rolf, Gail P. Jarvik, Katrina A. B. Goddard, Benjamin S. Wilfond
Summary: This study compared the impact of a decision aid and viewing web-based additional results information alone on informed values-choice congruence and knowledge level in adults deciding about receiving genomic results, with no significant differences. Most participants had information-seeking values and chose to receive additional results.
GENETICS IN MEDICINE
(2022)
Article
Biochemical Research Methods
Giovanna Carpi, Lev Gorenstein, Timothy T. Harkins, Mehrzad Samadi, Pankaj Vats
Summary: The study introduces an accelerated, scalable, reproducible, and cost-effective framework for pathogen genomic variant identification. The evaluation on benchmark datasets of malaria genomes demonstrates superior performance and accuracy compared to standard pipelines.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Biochemistry & Molecular Biology
Yann X. C. Bourgeois, Ben H. Warren
Summary: The continuous improvement of high-throughput sequencing techniques has enabled the production of whole genome data in various species, which in turn provides better tools for integrating selection into historical frameworks. However, the plethora of analytical tools may confuse users and hinder the dissemination of the latest methods.
Article
Surgery
Joshua E. Rosen, Frank F. Yang, Joshua M. Liao, David R. Flum, Jonathan E. Kohler, Nidhi A. Agrawal, Giana H. Davidson
Summary: This study developed a novel decision aid for patients with acute appendicitis in the emergency department who have to make a choice between surgery and antibiotic management. The implementation of the decision aid improved patients' understanding and decreased decisional conflict in treatment decisions. These findings support further large-scale testing of the decision aid.
JOURNAL OF SURGICAL RESEARCH
(2023)
Review
Ophthalmology
Kathryn P. Burdon
Summary: Genomic testing evaluates multiple genes in one test, assisting in the diagnosis of various genetic disorders, especially in ophthalmology. Patients receiving a molecular diagnosis benefit from clearer information regarding diagnosis, treatment, and genetic counseling.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2021)
Article
Health Care Sciences & Services
Rebecca L. Hsu, Amanda M. Gutierrez, Sophie K. Schellhammer, Jill O. Robinson, Sarah Scollon, Richard L. Street, Alyssa N. Salisbury, Stacey Pereira, Sharon E. Plon, Janet Malek, D. Williams Parsons, Amy L. McGuire
Summary: Pediatric oncologists find collaboration with genetic counselors crucial in interpreting and communicating genomic results, with most adopting a collaborative approach in discussing findings. Genetic counselors play key roles in answering families' questions and simplifying information during the return of results process. Challenges include conveying uncertain information in simple terms and addressing families' emotional responses, emphasizing the essential support provided by genetic counselors and geneticists in the return of genomic results process.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Oncology
Michelle van den Berg, Elleke van der Meij, Annelies M. E. Bos, Marieke C. S. Boshuizen, Domino Determann, Ramon R. J. P. van Eekeren, Christianne A. R. Lok, Eva E. Schaake, Petronella O. Witteveen, Marielle J. Wondergem, Didi D. M. Braat, Catharina C. M. Beerendonk, Rosella P. M. G. Hermens
Summary: Developed fertility preservation decision aids specifically for cancer patients were highly appreciated in decision making, with cancer-specific information and tools for recognizing personal values being particularly valuable. Revisions were made to enhance readability, personalization, usability, and to avoid giving false hope.
Article
Education, Scientific Disciplines
Mingyin Jiang, Xuancheng Tu, Wanchao Xiao, Jinhui Tang, Qiang Li, Dongjie Sun, Daoxiong Wang
Summary: The usability study showed that the Varian Trilogy radiotherapy system outperformed the XHA600E in user testing, with better user experience and lower workload. These results provide valuable evidence for hospital procurement decision-making in selecting a suitable radiotherapy system.
Article
Biochemistry & Molecular Biology
Aparna Lajmi, Felix Glinka, Eyal Privman
Summary: Double-digest Restriction-site Associated DNA sequencing (ddRADseq) is commonly used for generating genomic data in evolutionary and ecological studies. However, designing a ddRADseq experiment can be challenging due to various factors. This study investigates the effects of enzyme choice and size selection on sequencing efficiency and develops a user-friendly webtool, ddgRADer, to aid in experimental design and improve sequencing efficiency.
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Genetics & Heredity
Daren C. Card, Andrew G. Van Camp, Trenten Santonastaso, Michael I. Jensen-Seaman, Nicola M. Anthony, Scott V. Edwards
Summary: The study identified the core MHC genomic region in two squamate species and revealed similarities and differences in the genomic structure and composition of MHC regions between squamates and mammals. The investigation also highlighted unique features of the anole MHC, such as higher proportions of DNA transposons and larger MHC region size. Evolutionary analyses of MHC homologs in squamates and other amniotes demonstrated species-specific relationships and functional relevance of certain codons under diversifying selection.
FRONTIERS IN GENETICS
(2022)
Article
Public, Environmental & Occupational Health
Aya Ahmed Abousheishaa, Nor Hazila Mat Lazim, Song Ling Tang, Ahmad Hatim Sulaiman, Hasniza Zaman Huri, Ng Chong Guan
Summary: This study developed and evaluated a decision aid tool for Malaysian patients with MDD to support treatment decision-making during consultation. The tool increased patients' involvement in shared decision making and enhanced their preparedness for decision making without extending the consultation time.
PATIENT EDUCATION AND COUNSELING
(2022)
Article
Nursing
Celia Hindmarsh, Deborah L. Davis
Summary: The research aimed to develop and pilot test a Decision Aid focusing on the choice between midwife led and standard models of maternity care. Pilot acceptability testing with women and staff of ACT health demonstrated its acceptability and highlighted areas for further development.
Article
Oncology
Samuel Carbunaru, Zequn Sun, Cordero McCall, Bernice Ofori, Norma Marshall, Heidy Wang, Michael Abern, Li Liu, Courtney M. P. Hollowell, Roohollah Sharifi, Patricia Vidal, Andre Kajdacsy-Balla, Marin Sekosan, Karen Ferrer, Shoujin Wu, Marlene Gallegos, Peter H. Gann, Daniel Moreira, Lisa K. Sharp, Carol E. Ferrans, Adam B. Murphy
Summary: This study investigates the impact of the Oncotype Dx Genomic Prostate Score (GPS) on urologists' treatment preference for favorable risk prostate cancer. The findings suggest that GPS testing reduces the likelihood of urologists recommending active surveillance.
Article
Oncology
Hallie Coltin, Adam Rapoport, Nancy N. Baxter, Chenthila Nagamuthu, Paul C. Nathan, Jason D. Pole, Franco Momoli, Sumit Gupta
Summary: Adolescents and young adults with cancer may receive high-intensity end-of-life care, with pediatric care and rural residence associated with higher odds of ICU death.
Article
Oncology
Nancy N. Baxter, Erin B. Kennedy, Emily Bergsland, Jordan Berlin, Thomas J. George, Sharlene Gill, Philip J. Gold, Alex Hantel, Lee Jones, Christopher Lieu, Najjia Mahmoud, Arden M. Morris, Erika Ruiz-Garcia, Y. Nancy You, Jeffrey A. Meyerhardt
Summary: The study aims to develop recommendations for adjuvant therapy for patients with resected stage II colon cancer.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Oncology
Alina Zgardau, Joel G. Ray, Nancy N. Baxter, Chenthila Nagamuthu, Alison L. Park, Sumit Gupta, Paul C. Nathan
Summary: Female survivors of pediatric cancer have a lower likelihood of achieving pregnancy and, once pregnant, are at higher risk for preterm birth and maternal complications.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Editorial Material
Oncology
Kenneth Offit, Catherine M. Sharkey, Dina Green, Xiaohan Wu, Magan Trottier, Jada G. Hamilton, Michael F. Walsh, Sita Dandiker, Sami Belhadj, Steven M. Lipkin, Thelma Alessandra Sugranes, Michele Caggana, Zsofia K. Stadler
Summary: Cancer predictive or diagnostic assays, known as Laboratory-Developed Tests (LDTs), lack proper regulatory oversight in the US. They enter the market without review, potentially jeopardizing patient safety. The proposed Verifying Accurate Leading-edge IVCT Development Act aims to harmonize regulations and address concerns over the quality, utility, and safety of LDTs for cancer genomics.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Yelena P. Wu, Jada G. Hamilton, Kimberly A. Kaphingst, Jakob D. Jensen, Wendy Kohlmann, Bridget G. Parsons, Helen M. Lillie, Xuechen Wang, Benjamin Haaland, Ali P. Wankier, Douglas Grossman, Jennifer L. Hay
Summary: The study examined the unique and combined impacts of personalized ultraviolet (UV) radiation photographs, genetic testing for skin cancer risk, and general skin cancer prevention education. The combined intervention of UV photo and genetic testing had the most consistent positive effects on skin cancer prevention behaviors. Intervention effects varied across seasons.
JOURNAL OF CANCER EDUCATION
(2023)
Article
Oncology
Van K. Morris, Erin B. Kennedy, Nancy N. Baxter, Al B. Benson, Andrea Cercek, May Cho, Kristen K. Ciombor, Chiara Cremolini, Anjee Davis, Dustin A. Deming, Marwan G. Fakih, Sepideh Gholami, Theodore S. Hong, Ishmael Jaiyesimi, Kelsey Klute, Christopher Lieu, Hanna Sanoff, John H. Strickler, Sarah White, Jason A. Willis, Cathy Eng
Summary: The purpose of this study is to develop treatment recommendations for patients with metastatic colorectal cancer (mCRC). An Expert Panel convened by ASCO conducted a systematic review of relevant studies and developed recommendations for clinical practice. Based on the inclusion criteria, five systematic reviews and ten randomized controlled trials were included in the analysis. The recommendations include offering doublet chemotherapy or triplet therapy to previously untreated mCRC patients who are initially unresectable, based on studies of chemotherapy combined with anti-vascular endothelial growth factor antibodies. Pembrolizumab is recommended for first-line treatment of mCRC patients with microsatellite instability-high or deficient mismatch repair tumors. Chemotherapy and anti-epidermal growth factor receptor therapy are recommended for microsatellite stable or proficient mismatch repair left-sided treatment-naive RAS wild-type mCRC, while chemotherapy and anti-vascular endothelial growth factor therapy are recommended for microsatellite stable or proficient mismatch repair RAS wild-type right-sided mCRC. Encorafenib plus cetuximab is recommended for previously treated BRAF V600E-mutant mCRC patients who have progressed after one previous line of therapy. Other recommendations are provided for patients with colorectal peritoneal metastases, liver metastases, and candidates for potentially curative resection of liver metastases. Multidisciplinary team management and shared decision making are also recommended.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Genetics & Heredity
Danielle B. McKenna, Pauleen Sanchez, Jacquelyn Powers, Jamie Brower, Louise Wang, Rebecca Mueller, Heather Symecko, Jada G. Hamilton, Temima Wildman, Susan M. Domchek, Fergus J. Couch, Judy E. Garber, Kenneth Offit, Mark E. Robson, Bryson W. Katona
Summary: Germline genetic testing for inherited cancer risk often includes MUTYH on multigene panels. This study explored the experiences and understanding of monoallelic MUTYH carriers, finding overall satisfaction with healthcare management and familial communication. However, there were varying levels of knowledge regarding cancer risks and screening recommendations for MUTYH carriers.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Health Care Sciences & Services
Samantha Pollard, Deirdre Weymann, Rosalie Loewen, Jennifer Nuk, Sophie Sun, Kasmintan A. Schrader, Chiquita Hessels, Dean A. Regier
Summary: A patient portal was developed to improve familial communication for patients undergoing genetic testing for hereditary cancer syndromes. The portal includes educational information, a FAQ page, guidance for familial communication, and lay summaries of genetic test findings. Feedback from healthcare providers and patients was used to refine the portal.
HEALTH EXPECTATIONS
(2023)
Article
Psychology, Clinical
Malwina Lewicka, Jada G. Hamilton, Erika A. Waters, Heather Orom, Elizabeth Schofield, Marc T. Kiviniemi, Peter A. Kanetsky, Jennifer L. Hay
Summary: The negative impact of the COVID-19 pandemic on mental health is well-known, but little is known about how the involvement of someone with COVID-19 in one's social circle affects psychological functioning. This study found that social COVID-19 exposure was associated with increased anxiety, stress, and concerns about family members getting sick and engaging in substance abuse. These psychological effects were stronger in women, younger individuals, and those with lower income, suggesting that these groups are at a higher risk and should be prioritized in mental health recovery efforts.
JOURNAL OF BEHAVIORAL MEDICINE
(2023)
Article
Genetics & Heredity
Salma Shickh, Agnes H. Sebastian, Marc Clausen, Chloe Mighton, Christine F. Elser, Andrea Eisen, Larissa Waldman, Seema Panchal, Thomas Ward, June E. Carroll, Emily Glogowski, Kasmintan Schrader, Jordan A. Lerner-Ellis, Raymond Kim, Kevin E. Thorpe, Yvonne Bombard
Summary: This study aimed to understand patient preferences and factors influencing preferences for secondary findings from genomic sequencing. The majority of adult cancer patients in the trial expressed interest in receiving various types of secondary findings, even those without immediate medical actionability. Older participants were more interested in early-onset neurological diseases, and those with lower decisional conflict were more likely to select all categories. The results emphasize the importance of incorporating patient preferences into guidelines on secondary findings.
Article
Genetics & Heredity
Emily Hasser, Beth N. Peshkin, Jada G. Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Sarah Vittone, Marcelo Sleiman Jr, Claudine Isaacs, Sarah Knerr, Benjamin S. Wilfond, Kenneth P. Tercyak
Summary: Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing is recommended for minor children due to ethical concerns and low clinical utility. However, parents with disease-causing genetic variants may be interested in testing their children for inherited conditions. A study examined high-risk parents' opinions about pediatric DTC genetic testing and found that a majority held favorable opinions. The study also validated the use of the Pediatric Testing Attitudes Scale (P-TAS) in assessing parental opinions and identified factors that influenced these opinions.
JOURNAL OF GENETIC COUNSELING
(2023)
Review
Genetics & Heredity
Rita Kodida, Emma Reble, Marc Clausen, Salma Shickh, Chloe Mighton, Jordan Sam, Nicole Forster, Seema Panchal, Melyssa Aronson, Kara Semotiuk, Tracy Graham, Yael Silberman, Susan Randall Armel, Jeanna M. McCuaig, Iris Cohn, Chantal F. Morel, Christine Elser, Andrea Eisen, June C. Carroll, Emily Glogowski, Kasmintan A. Schrader, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Raymond H. Kim, Yvonne Bombard, Incidental Genom Study Team
Summary: Secondary findings identified through genomic sequencing can provide various health benefits to patients, but resource and capacity constraints pose challenges to their clinical management. Clinical workflows are needed to optimize the benefits of these findings.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Erica S. S. Tsang, Veronika Csizmok, Laura M. M. Williamson, Erin Pleasance, James T. T. Topham, Joanna M. M. Karasinska, Emma Titmuss, Intan Schrader, Stephen Yip, Basile Tessier-Cloutier, Karen Mungall, Tony Ng, Sophie Sun, Howard J. J. Lim, Jonathan M. M. Loree, Janessa Laskin, Marco A. A. Marra, Steven J. M. Jones, David F. F. Schaeffer, Daniel J. J. Renouf
Summary: Emerging evidence suggests a predictive role of homologous recombination deficiency (HRD) in gastrointestinal and thoracic malignancies. In this study, whole genome and transcriptomic data were reviewed to evaluate HRD scores and single base substitution 3 (SBS3) in advanced GI and thoracic cancers. The association between HRD and time to progression on platinum (TTPp) was examined, and it was found that SBS3 was more strongly associated with TTPp in GI malignancies. Tumors with gBRCA1/2 mutations and a somatic second alteration showed high SBS3 and HRD scores, indicating potential therapeutic targets.
NPJ PRECISION ONCOLOGY
(2023)
Review
Gastroenterology & Hepatology
Colin Sue-Chue-Lam, Matthew Castelo, Amina Benmessaoud, Teruko Kishibe, Diego Llovet, Christine Brezden-Masley, Amy Y. X. Yu, Jill Tinmouth, Nancy N. Baxter
Summary: A scoping review found limited research on non-pharmacological interventions to improve patient-reported outcomes of colonoscopy. There was significant variation in the characteristics and results of the included studies across different countries. Future research should focus on underinvestigated interventions and develop consensus-based guidelines for study design.
BMJ OPEN GASTROENTEROLOGY
(2023)
Article
Oncology
Colin Sue-Chue-Lam, Christine Brezden-Masley, Rinku Sutradhar, Amy Y. X. Yu, Nancy N. Baxter
Summary: This study examined the association between the duration of oxaliplatin-containing adjuvant chemotherapy and mortality in stage III colon cancer. The results showed that compared to receiving a full course of treatment, patients who received only 50% of the course had slightly higher overall mortality and cancer-specific mortality, but the differences were not significant.
