Article
Public, Environmental & Occupational Health
Alessia Cazzaniga, Marta Plebani, Marco Crimi
Summary: Genetic counselors are professionals trained in medical genetics and counseling who help individuals understand genetic predispositions and the impact of genetic diseases on themselves, their partners, and their families. With the increasing availability of online resources, online genetic counseling services have emerged. This study introduces Genome Access, a digital platform that enhances patient knowledge and supports specialists in genetic counseling.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Oncology
D. C. Greenberg, D. Kamara, Z. Tatsugawa, M. Mendoza, E. Pineda, C. H. Holschneider, M. Zakhour
Summary: This study assessed the quality of patient education videos from four major genetic testing companies and found variability in content, with the videos performing well in explaining DNA basics, cancer development, and hereditary cancer predisposition, but poorly in addressing potential disadvantages of genetic testing, medical terms, and different testing options.
GYNECOLOGIC ONCOLOGY
(2021)
Review
Medicine, General & Internal
Clara Fernanda Kusuma, Levina Aristawidya, Chairani Putri Susanti, Angga Prawira Kautsar
Summary: This review evaluates the effectiveness of telemedicine as an intervention for patients with diabetes mellitus. The findings suggest that telemedicine counseling is more effective than conventional counseling in achieving decreased blood glucose levels in patients with diabetes mellitus while increasing their treatment adherence and improving their quality of life.
Article
Health Care Sciences & Services
Nathalie Salles, Florence Saillour-Glenisson, Matthieu Sibe, Emmanuel Langlois, Marion Kret, Jessica Durrieu, Nora Arditi, Maelys Abraham, Frederic Perry
Summary: The study aims to analyze the impact of implementing an interactive telemedicine protocol in nursing homes on the rate of unplanned hospitalizations, quality of work life, and organizational conditions. It will use a mixed methods approach, including a non-randomized controlled trial and qualitative analysis of organizational and professional contexts. The study protocol has been approved by the French Ministry of Health and received ethical approval from Bordeaux University Hospital.
Article
Pediatrics
Heather J. Stalker, Amy R. Jonasson, Sidney M. Hopfer, Melanie Sue Collins
Summary: Genetic counseling through telemedicine was well received by families, leading to improved understanding of CF-related risks for their child and other family members. The study also showed that parents demonstrated better comprehension of the genetic implications of an abnormal CF newborn screen after receiving counseling via telemedicine. Additionally, the use of trained CF genetic counselors through telemedicine proved to be feasible and effective in improving parent understanding of CF genetics across a wide geographical area.
PEDIATRIC PULMONOLOGY
(2023)
Article
Oncology
Zahraa Al-Hilli, Ryan Noss, Jennifer Dickard, Wei Wei, Anna Chichura, Vincent Wu, Kayla Renicker, Holly J. Pederson, Charis Eng
Summary: Alternative service delivery models are crucial in meeting the increasing demand for genetics services and limited availability of genetics experts. A prospective randomized controlled trial showed that satisfaction and comprehension were comparable between pre-test counseling with a Chatbot and in-person genetic counseling for breast cancer patients. Using automated Chatbot technology can improve access to care and serve as an alternative for pre-test counseling.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Veda N. Giri, Todd M. Morgan, David S. Morris, Jacob E. Berchuck, Colette Hyatt, Mary-Ellen Taplin
Summary: Inherited genetic mutations are closely associated with the risk of prostate cancer, and germline genetic testing plays an important role in determining treatment options and screening high-risk populations. Primary care is a critical field for clinicians to evaluate high-risk patients, individuals with prostate cancer, and survivors who may require germline genetic testing.
CA-A CANCER JOURNAL FOR CLINICIANS
(2022)
Article
Genetics & Heredity
Ellie M. Proussaloglou, Ekaterina L. Koelliker, Jessica Laprise, Jennifer Scalia Wilbur, Katina Robison, Ashley Stuckey, Katherine Crawford
Summary: The COVID-19 outbreak in March 2020 led to a shift to telemedicine for cancer genetic counseling. This study aimed to determine the impact of telehealth services on patient acceptance of recommended genetic testing, time to test completion, and follow-up appointments. The results showed that in-person visits had higher rates of consent to testing, sample submission, and shorter turnaround time for test results compared to telehealth visits. However, there were no significant differences in compliance with screening recommendations between the two groups.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Health Care Sciences & Services
Johanna Tecklenburg, Beate Vajen, Susanne Morlot, Petra Anders, Paula Memenga, Elena Link, Eva Baumann, Sarah Woelffling, Evelin Schroeck, Anke Katharina Bergmann, Brigitte Schlegelberger
Summary: The OnkoRiskNET study aims to increase the diagnostic rate of genetic tumor risk syndromes through structured collaboration and telemedical genetic counseling, addressing the current issues in the care of oncological patients.
BMC HEALTH SERVICES RESEARCH
(2022)
Editorial Material
Health Care Sciences & Services
Tyla Thomas-Jacques, Trevor Jamieson, James Shaw
Summary: The pandemic has led to a significant increase in virtual care, with telephone care becoming crucial for many populations. However, relying on complex technologies as the new standard of virtual care may worsen health disparities by deepening the digital divide for marginalized populations.
NPJ DIGITAL MEDICINE
(2021)
Article
Oncology
Cara N. Cacioppo, Brian L. Egleston, Dominique Fetzer, Colleen Burke Sands, Syeda A. Raza, Neeraja Reddy Malleda, Elisabeth McCarty Wood, India Rittenburg, Julianne Childs, David Cho, Martha Hosford, Tina Khair, Jamil Khatri, Lydia Komarnicky, Trina Poretta, Fahd Rahman, Satish Shah, Linda J. Patrick-Miller, Susan M. Domchek, Angela R. Bradbury
Summary: The study found that telehealth can increase the uptake of genetic counseling and testing at oncology practices without genetic counselors, potentially improving the identification of genetic carriers and cancer prevention outcomes.
Article
Genetics & Heredity
Sook-Yee Yoon, Siu Wan Wong, Joanna Lim, Syuhada Ahmad, Shivaani Mariapun, Heamanthaa Padmanabhan, Nur Tiara Hassan, Shao Yan Lau, Gaik-Siew Ch'ng, Muzhirah Haniffa, Winnie P. Ong, Kavitha Rethanavelu, Lip Hen Moey, Wee Teik Keng, Jamil Omar, Mohd Norazam Mohd Abas, Chee Meng Yong, Vickneswaren Ramasamy, Mohd Rushdan Md Noor, Ismail Aliyas, Michael C. K. Lim, Anuradha Suberamaniam, Noor Azmi Mat Adenan, Zatul Akmar Ahmad, Gwo Fuang Ho, Rozita Abdul Malik, Suguna Subramaniam, Boom Ping Khoo, Arivendran Raja, Yeung Sing Chin, Wee Wee Sim, Beng Hock Teh, Swee Kiong Kho, Eunice S. E. Ong, Pei Jye Voon, Ghazali Ismail, Chui Ling Lee, Badrul Zaman Abdullah, Kwong Sheng Loo, Chun Sen Lim, Saw Joo Lee, Keng Joo Lim Lim, Mohamad Nasir Shafiee, Fuad Ismail, Zarina Abdul Latiff, Mohd Pazudin Ismail, Mohamad Faiz Mohamed Jamli, Suresh Kumarasamy, Kin Wah Leong, John Low, Mastura Md Yusof, Ahmad Muzamir Ahmad Mustafa, Nor Huda Mat Ali, Mary Makanjang, Shahila Tayib, Nellie Cheah, Boon Kiong Lim, Chee Kin Fong, Yoke Ching Foo, Matin Mellor Abdullah, Teck Sin Tan, Doris S. Y. Chow, Kean Fatt Ho, Rakesh Raman, Ahmad Radzi, Azura Deniel, Daren C. Y. Teoh, Soo Fan Ang, Joseph K. Joseph, Paul Hock Oon Ng, Lye-Mun Tho, Azura Rozila Ahmad, Ileena Muin, Eveline Bleiker, Angela George, Meow-Keong Thong, Yin Ling Woo, Soo Hwang Teo
Summary: The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian settings, increasing coverage for genetic testing. Results show high satisfaction among oncologists with mainstreaming, as well as high patient satisfaction and low decision conflict and psychological impact.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pediatrics
Alison L. Curfman, Jesse M. Hackell, Neil E. Herendeen, Joshua J. Alexander, James P. Marcin, William B. Moskowitz, Chelsea E. F. Bodnar, Harold K. Simon, S. David McSwain
Summary: All children and adolescents should have access to quality healthcare regardless of their race, financial resources, or location. Disparities in availability and access to high-quality pediatric care persist in the United States due to economic, racial, and geographical factors, as well as limited availability of pediatric specialists. Robust telehealth coverage is crucial for improving access to pediatric care and services, especially for underprivileged populations.
Review
Health Care Sciences & Services
Amy G. G. Cantor, Heidi D. D. Nelson, Miranda Pappas, Chandler Atchison, Brigit Hatch, Nathalie Huguet, Brittny Flynn, Marian McDonagh
Summary: This comparative effectiveness review examined telehealth interventions for women's reproductive health and intimate partner violence (IPV) services. The findings suggest that telehealth interventions have comparable outcomes to in-person care for contraceptive use, sexually transmitted infections, pregnancy, repeat IPV, depression, and other outcomes. However, more research is needed in this area.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2023)
Article
Surgery
Steven C. Mehl, Walker D. Short, Paulina Powell, Trenton M. Haltom, Sara Davis, Michael A. Belfort, Robert H. Ball, Timothy C. Lee, Sundeep G. Keswani, Alice King
Summary: The study found no significant difference in patient demographics at the fetal center before and after the implementation of telemedicine over a year. However, patients had unique perspectives on the advantages and disadvantages of telemedicine experience, suggesting patient preference should be considered for scheduling outpatient surgical counseling and visits to ensure patient centered care.
JOURNAL OF SURGICAL RESEARCH
(2022)
Editorial Material
Pharmacology & Pharmacy
Alanna Kulchak Rahm, Cecelia Bellcross, Deborah Cragun, Debra Duquette, Heather Hampel, Brandie Heald
PERSONALIZED MEDICINE
(2020)
Article
Pediatrics
Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa A. Kelly, H. Lester Kirchner, Michelle N. Meyer, Jessica Mozersky, Sean M. O'Dell, Josie Pervola, Andrea Seeley, Amy C. Sturm, Adam H. Buchanan
Article
Genetics & Heredity
Miranda L. G. Hallquist, Eric P. Tricou, Michael N. Hallquist, Juliann M. Savatt, Heather Rocha, Alyson E. Evans, Nicole Deckard, Yirui Hu, H. Lester Kirchner, Josie Pervola, Alanna Kulchak Rahm, Misha Rashkin, Tara J. Schmidlen, Marci L. B. Schwartz, Janet L. Williams, Marc S. Williams, Adam H. Buchanan
GENETICS IN MEDICINE
(2020)
Article
Oncology
Swetha Srinivasan, Heather Hampel, Jennifer Leeman, Amit Patel, Alanna Kulchak Rahm, Daniel S. Reuland, Megan C. Roberts
CANCER PREVENTION RESEARCH
(2020)
Article
Health Care Sciences & Services
Jing Hao, Dina Hassen, James M. Gudgeon, Susan R. Snyder, Heather Hampel, Marc S. Williams, Ravi N. Sharaf, Christine Y. Lu, Janet L. Williams, Victoria Schlieder, Alanna Kulchak Rahm
Summary: An updated economic evaluation compared eight different Lynch syndrome screening protocols for newly diagnosed colorectal cancer patients. The study found that the DGS and TSGS protocols performed best in identifying LS cases, while the IHC protocol was the most efficient in terms of cost per LS case identified.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Behavioral Sciences
Sean M. O'Dell, Matthew J. Gormley, Victoria Schlieder, Tracey Klinger, Kathy DeHart, Paul W. Kettlewell, Alanna Kulchak Rahm
Summary: Despite effective treatments and guidelines, youth with ADHD receive suboptimal care. More research is needed to address care gaps, especially in rural health systems. A qualitative study and PCC trainings were conducted to identify determinants of current practices and suggest quality improvement initiatives.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2022)
Article
Health Care Sciences & Services
Laney K. Jones, Marc S. Williams, Ilene G. Ladd, Dylan Cawley, Shuping Ge, Jing Hao, Dina Hassen, Yirui Hu, H. Lester Kirchner, Maria Kobylinski, Michael G. Lesko, Matthew C. Nelson, Alanna K. Rahm, David D. Rolston, Katrina M. Romagnoli, Tyler J. Schubert, Timothy C. Shuey, Amy C. Sturm, Samuel S. Gidding
Summary: The CARE-FH study aims to improve diagnostic evaluation rates for Familial Hypercholesterolemia (FH) through a collaborative approach. By using implementation science, the study transitions the initial evaluation for FH into primary care, in an attempt to identify individuals before the onset of atherosclerotic cardiovascular disease events.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Anna Baker, Kasia Tolwinski, Jamie Atondo, F. Daniel Davis, Jessica Goehringer, Laney K. Jones, Cassandra J. Pisieczko, Amy C. Sturm, Janet L. Williams, Marc S. Williams, Alanna Kulchak Rahm, Adam H. Buchanan
Summary: Understanding individuals' experiences receiving genetic results is crucial for clinical utility and population health improvement. Through qualitative interviews, this study explored the response of individuals who received clinically actionable genetic results. The findings revealed that participants were satisfied with the disclosure process, initially had a range of psychological reactions to the results, and took actions and communicated the results with close relatives.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
Emily C. Marlow, Jonathan M. Ducore, Marilyn L. Kwan, Erin J. A. Bowles, Robert T. Greenlee, Jason D. Pole, Alanna K. Rahm, Natasha K. Stout, Sheila Weinmann, Rebecca Smith-Bindman, Diana L. Miglioretti
Summary: Children with Down syndrome undergo medical imaging and radiation exposure more frequently than other children, especially at a young age when they are more vulnerable to radiation.
Article
Genetics & Heredity
Katrina M. Romagnoli, Alanna Rahm, Mary Cabell Jonas, Rachel Schwiter, Tracey Klinger, Ilene Ladd, Zachary Salvati, Anna DiNucci, Paula Blasi, Leigh Sheridan, Aaron Scrol, Nora Henrikson
Summary: A traceback genetic testing program for ovarian cancer aims to identify hereditary breast and ovarian cancer in individuals and their relatives. A study was conducted to understand the preferences and barriers experienced by participants with ovarian, fallopian tube, or peritoneal cancer and those with a family history of ovarian cancer. The findings revealed that participants prefer discussing genetic testing with a knowledgeable clinician and directed communication for receiving an invitation to participate in genetic testing. The study's results are guiding the implementation of traceback cascade genetic testing programs.
PUBLIC HEALTH GENOMICS
(2023)
Review
Health Care Sciences & Services
Alanna Kulchak Rahm, Nephi A. Walton, Lynn K. Feldman, Conner Jenkins, Troy Jenkins, Thomas N. Person, Joeseph Peterson, Jonathon C. Reynolds, Peter N. Robinson, Makenzie A. Woltz, Marc S. Williams, Michael M. Segal
Summary: This study provides preliminary evidence for the usability, workflow fit, acceptability, and implementation potential of a modified DDSS that includes machine-assisted chart review. Continued development and testing using principles from human-centered design and implementation science are necessary to improve technical functionality and acceptability for multiple stakeholders and organizational implementation potential to improve the genomic diagnosis process.
BMJ HEALTH & CARE INFORMATICS
(2021)
Meeting Abstract
Psychology, Multidisciplinary
Alanna Kulchak Rahm, Anna M. Baker, Adam Buchanan, Jessica Goehringer, Kasia Tolwinski, Laney Jones
ANNALS OF BEHAVIORAL MEDICINE
(2020)
Meeting Abstract
Health Care Sciences & Services
Megan Roberts, Swetha Srinivasan, Alanna Kulchak Rahm, Heather Hampel, Daniel Reuland, Amit Patel, Jennifer Leeman
IMPLEMENTATION SCIENCE
(2020)
Article
Health Care Sciences & Services
Jing Hao, Dina Hassen, Kandamurugu Manickam, Michael F. Murray, Dustin N. Hartzel, Yirui Hu, Kunpeng Liu, Alanna Kulchak Rahm, Marc S. Williams, Amanda Lazzeri, Adam Buchanan, Amy Sturm, Susan R. Snyder
JOURNAL OF PERSONALIZED MEDICINE
(2020)
Article
Public, Environmental & Occupational Health
Laney K. Jones, Samuel S. Gidding, Terry L. Seaton, Anne Goldberg, Christina Gregor, Amy C. Sturm, Ross C. Brownson, Alanna Kulchak Rahm, Marc S. Williams
RESEARCH IN SOCIAL & ADMINISTRATIVE PHARMACY
(2020)