Medical Genetics Commons^™

Payer Reimbursement Practices And Incentives For Improving Interpretation Of Germline Genetic Testing, Patricia Deverka, Janis Geary, Charles Mathews, Matan Cohen, Gillian Hooker, Mary Majumder, Zuzana Skvarkova, Robert Cook-Deegan

Center for Medical Ethics and Health Policy Staff Publications

Germline genetic testing for inherited cancer risk has shifted to multi-gene panel tests (MGPTs). While MGPTs detect more pathogenic variants, they also detect more variants of uncertain significance (VUSs) that increase the possibility of harms such as unnecessary surgery. Data sharing by laboratories is critical to addressing the VUS problem. However, barriers to sharing and an absence of incentives have limited laboratory contributions to the ClinVar database. Payers can play a crucial role in the expansion of knowledge and effectiveness of genetic testing. Current policies affecting MGPT reimbursement are complex and create perverse incentives. Trends in utilization and coverage for …

Pain Experience And Sensory Changes In Astronauts During And After Short-Lasting Commercial Spaceflight: A Proof-Of-Concept Study, Andrea K Sauer, Marie Vigouroux, Patrick M Dougherty, Juan Pablo Cata, Pablo M Ingelmo

Faculty, Staff and Student Publications

Space travel has been associated with musculoskeletal pain, yet little is known about the nociceptive changes and pain experience during spaceflight. This preliminary study aims to investigate the pain experience and sensory alterations in astronauts following a 17-day mission to the International Space Station (ISS) on Axiom Space's AX-1 commercial space flight. Two participants were enrolled, and data were collected pre-flight, in-flight, post-flight, and three-month post-flight. Validated pain questionnaires assessed anxiety, catastrophizing, impact on physical and mental health, disability, and overall pain experience. Qualitative interviews were conducted post-landing and conditioned pain modulation (CPM) and quantitative sensory testing (QST) were performed. …

Within Subject Cross-Tissue Analyzes Of Epigenetic Clocks In Substance Use Disorder Postmortem Brain And Blood, Brenda Cabrera-Mendoza, Laura Stertz, Katherine Najera, Sudhakar Selvaraj, Antonio L Teixeira, Thomas D Meyer, Gabriel R Fries, Consuelo Walss-Bass

Faculty, Staff and Student Publications

There is a possible accelerated biological aging in patients with substance use disorders (SUD). The evaluation of epigenetic clocks, which are accurate estimators of biological aging based on DNA methylation changes, has been limited to blood tissue in patients with SUD. Consequently, the impact of biological aging in the brain of individuals with SUD remains unknown. In this study, we evaluated multiple epigenetic clocks (DNAmAge, DNAmAgeHannum, DNAmAgeSkinBlood, DNAmPhenoAge, DNAmGrimAge, and DNAmTL) in individuals with SUD (n = 42), including alcohol (n = 10), opioid (n = 19), and stimulant use disorder (n = 13), and controls (n = 10) in …

An Updated Examination Of The Perception Of Barriers For Pharmacogenomics Implementation And The Usefulness Of Drug/Gene Pairs In Latin America And The Caribbean, Aimeé Salas-Hernández, Macarena Galleguillos, Matías Carrasco, Andrés López-Cortés, María Ana Redal, Dora Fonseca-Mendoza, Patricia Esperón, Farith González-Martínez, Ismael Lares-Asseff, Alberto Lazarowski, Verónica Loera-Castañeda, Diadelis Remírez, Matías F Martínez, Rodrigo Vargas, Fabricio Rios-Santos, Antonio Macho, Juan P Cayún, Germán R Perez, Carolina Gutierrez, Leslie C Cerpa, Tamara Leiva, Susan Calfunao, Lesly Xajil, Christopher Sandoval, Marcelo Suárez, Ariana Gonzalez, Gabriela Echeverría-Garcés, Luis Sullón-Dextre, Eugenia Cordero-García, Alexis R Morales, Andrea Avendaño, Enrique Sánchez, Laura C Bastone, Cesar Lara, Patricia Zuluaga-Arias, Ana María Soler, Julio Da Luz, Gabriela Burgueño-Rodríguez, Marcelo Vital, Elizabeth Reyes-Reyes, Alexander Huaccha, Yeimy V Ariza, Naomi Tzul, Ana L Rendón, Roberto Serrano, Larissa Acosta, Angelo Motta-Pardo, Leonardo Beltrán-Angarita, Erika Brand, Miguel A Jiménez, Gladys Maribel Hidalgo-Lozada, Marina M J Romero-Prado, Karla Escobar-Castro, Mariel Umaña-Rivas, Juan D Vivas, Paola Lagos, Yineth Ballén Martínez, Sharleth Quesada, Camila Calfio, Maria L Arias, María A Lavanderos, Dante D Cáceres, Alberto Salazar-Granara, Nelson M Varela, Luis A Quiñones

Faculty, Staff and Student Publications

Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx in the Latin American and the Caribbean (LAC) region remains scarce, with limited information in some populations. Thus, extrapolations are complicated, especially in mixed populations. In this paper, we reviewed and analyzed pharmacogenomic knowledge among the LAC scientific and clinical community and examined barriers to clinical application. We performed a search for publications and clinical trials in the field worldwide and evaluated the contribution of LAC. Next, we conducted a regional structured survey that evaluated a list of 14 potential barriers to the clinical implementation of biomarkers …

Community Engagement In Precision Medicine Research: Organizational Practices And Their Impacts For Equity, Janet K Shim, Nicole Foti, Emily Vasquez, Stephanie M Fullerton, Michael Bentz, Melanie Jeske, Sandra Soo-Jin Lee

Center for Medical Ethics and Health Policy Staff Publications

Background: In the wake of mandates for biomedical research to increase participation by members of historically underrepresented populations, community engagement (CE) has emerged as a key intervention to help achieve this goal.

Methods: Using interviews, observations, and document analysis, we examine how stakeholders in precision medicine research understand and seek to put into practice ideas about who to engage, how engagement should be conducted, and what engagement is for.

Results: We find that ad hoc, opportunistic, and instrumental approaches to CE exacted significant consequences for the time and resources devoted to engagement and the ultimate impacts it has on research. …

Public Mental Health During And After The Sars-Cov-2 Pandemic: Opportunities For Intervention, Melissa M Karnaze, Brent M Kious, Lindsay Z Feuerman, Sarah Classen, Jill O Robinson, Cinnamon S Bloss, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

Importance: During the pandemic, the number of United States adults reporting clinically significant symptoms of anxiety and depression sky-rocketed, up from 11% in 2020 to more than 40% in 2021. Our current mental healthcare system cannot adequately accommodate the current crisis; it is therefore important to identify opportunities for public mental health interventions.

Objective: Assess whether modifiable emotional factors may offer a point of intervention for the mental health crisis.

Design setting and participants: From January 13 to 15, 2022, adults living in the United States were recruited via Amazon Mechanical Turk to complete an anonymous survey.

Main outcomes and …

Renewed Calls For Abortion-Related Research In The Post-Roe Era, Sophie L Schott, April Adams, Ryan J Dougherty, Taylor Montgomery, Folasade C Lapite, Faith E Fletcher

Center for Medical Ethics and Health Policy Staff Publications

Nearly 50 years after Roe versus Wade, the United States Supreme Court's decision in Dobbs versus Jackson Women's Health Organization unraveled the constitutional right to abortion, allowing individual states to severely restrict or ban the procedure. In response, leading medical, public health, and community organizations have renewed calls for research to elucidate and address the burgeoning social and medical consequences of new abortion restrictions. Abortion research not only includes studies that establish the safety, quality, and efficacy of evidence-based abortion care protocols, but also encompasses studies on the availability of abortion care, the consequences of being denied an abortion, and …

A Population-Based Assessment Of Metastatic Hepatoblastoma In Texas Reveals Ethnic Disparities, Andres F Espinoza, Michael E Scheurer, Tiffany M Chambers, Sanjeev A Vasudevan, Philip J Lupo

Faculty, Staff and Students Publications

BACKGROUND: Hepatoblastoma (HB) is the most common primary liver cancer in children with emerging evidence that incidence is increasing globally. While overall survival for low risk hepatoblastoma is >90%, children with metastatic disease have worse survival. As identifying factors associated with high-risk disease is critical for improving outcomes for these children, a need for a further understanding of the epidemiology of hepatoblastoma is warranted. Therefore, we conducted a population-based epidemiologic study of hepatoblastoma in Texas, a large state characterized by ethnic and geographic diversity.

METHODS: Information on children diagnosed with hepatoblastoma at 0-19 years of age for the period of …

Enhancing Reciprocity, Equity And Quality Of Ethics Review For Multisite Research During Public Health Crises: The Experience Of The Covid-19 Clinical Research Coalition Ethics Working Group, Vasiliki Rahimzadeh, Jennyfer Ambe, Jantina De Vries

Center for Medical Ethics and Health Policy Staff Publications

In this paper we report findings from a commissioned report to the COVID-19 Clinical Research Coalition on approaches to streamline multinational REC review/approval during public health emergencies. As currently envisioned in the literature, a system of REC mutual recognition is theoretically possible based on shared procedural REC standards, but raises numerous concerns about perceived inequities and mistrust.

2023 Canadian Surgery Forum: Sept. 20-23, 2023, Raphaëlle Brière, Marce Émond, Axel Benhamed, Pierre-Gilles Blanchard, Sébastien Drolet, Rogeh Habashi, Bahar Golbon, Jonas Shellenberger, Jesse Pasternak, Shaila Merchant, Jonas Shellenberger, Julie La, Monakshi Sawhney, Susan Brogly, Lina Cadili, Michael Horkoff, Scott Ainslie, Jeffrey Demetrick, Brian Chai, Kevin Wiseman, Hamish Hwang, Zainab Alhumoud, Amro Salem, Rebecca Lau, Katherine Aw, Carolyn Nessim, Nada Gawad, Kameela Alibhai, Chelsea Towaij, Danielle Doan, Isabelle Raîche, Rahim Valji, Simon Turner, Patricia Nicole Balmes, Hamish Hwang, S Morad Hameed, Jun Guang Kendric Tan, Ruwan Wijesuriya, Jun Guang Kendric Tan, Nicole Lee Chui Hew, Ruwan Wijesuriya, Matthew Lund, Jeffrey Hawel, Jamie Gregor, Ken Leslie, Tori Lenet, Daniel Mcisaac, Julie Hallet, Angela Jerath, Manoj Lalu, Stuart Nicholls, Justin Presseau, Alan Tinmouth, Michael Verret, Christopher Wherrett, Dean Fergusson, Guillaume Martel, Sahil Sharma, Tyler Mckechnie, Gaurav Talwar, Janhavi Patel, Luke Heimann, Aristithes Doumouras, Dennis Hong, Cagla Eskicioglu, Christine Wang, Michael Guo, Longlong Huang, Shaun Sun, Noelle Davis, Julian Wang, Samuel Skulsky, Lindsey Sikora, Isabelle Raîche, Hyo Jin Son, Denise Gee, David Gomez, James Jung, Rajajee Selvam, Nieve Seguin, Lisa Zhang, Ariane Lacaille-Ranger, Lindsey Sikora, Daniel Mcisaac, Husein Moloo, Alicia Follett, Holly, Michael Organ, David Pace, Saba Balvardi, Pepa Kaneva, Koorosh Semsar-Kazerooni, Carmen Mueller, Melina Vassiliou, Mohammed Al Mahroos, Julio F Fiore, Kevin Schwartzman, Liane Feldman, Michael Guo, Ahmer Karimuddin, Gui Ping Liu, Trafford Crump, Jason Sutherland, Kala Hickey, Erin M Bonisteel, Jurgienne Umali, Ibrahim Dogar, Geoffrey Warden, Darrell Boone, Alexander Mathieson, Michael Hogan, David Pace, Nieve Seguin, Husein Moloo, Yiran Li, Gordon Best, Rachel Leong, Sam Wiseman, Ahmed Amine Alaoui, Roy Hajjar, Evelyne Wassef, Danny Sebastien Metellus, François Dagbert, Rasmy Loungnarath, Richard Ratelle, Frank Schwenter, Éric Debroux, Ramses Wassef, Marianne Gagnon-Konamna, Alfons Pomp, Carole S Richard, Herawaty Sebajang, Ahmed Amine Alaoui, Roy Hajjar, François Dagbert, Rasmy Loungnarath, Herawaty Sebajang, Richard Ratelle, Frank Schwenter, Éric Debroux, Ramses Wassef, Marianne Gagnon-Konamna, Alfons Pomp, Manuela M Santos, Carole S Richard, Ge Shi, Regina Leung, Christina Lim, Sarah Knowles, Simran Parmar, Christine Wang, Estifanos Debru, Fardowsa Mohamed, Megan Anakin, Yung Lee, Yasith Samarasinghe, Jigish Khamar, Bradley Petrisor, Tyler Mckechnie, Cagla Eskicioglu, Ilun Yang, Hanaa N Mughal, Mumtaz Bhugio, Muhammed A Gok, Usman A Khan, Alisha R Fernandes, Richard Spence, Geoffrey Porter, C Marius Hoogerboord, Katerina Neumann, Michal Pillar, Michael Guo, Neraj Manhas, Adrienne Melck, Tania Kazi, Tyler Mckechnie, Ghazal Jessani, Luke Heimann, Yung Lee, Dennis Hong, Cagla Eskicioglu, Tyler Mckechnie, Léa Tessier, Vicki Archer, Lily Park, Dan Cohen, Sameer Parpia, Mohit Bhandari, Joanna Dionne, Cagla Eskicioglu, Sara Bolin, Rebecca Afford, Madeleine Armstrong, Ahmer Karimuddin, Regina Leung, Ge Shi, Christina Lim, Aaron Grant, Julie Ann Van Koughnett, Sarah Knowles, Elizabeth Clement, Claire Lange, Aishwi Roshan, Ahmer Karimuddin, Tracy Scott, Kara Nadeau, Jennifer Macmillan, Jaime Wilson, Madeleine Deschenes, Aruba Nurullah, Caitlin Cahill, Victoria H Chen, Keiko M Patterson, Sam M Wiseman, Betty Wen, Joshua Bhudial, Anise Barton, Jessica Lie, Chan Mi Park, Laiji Yang, Natalia Gouskova, Dae Hyun Kim, Rebecca Afford, Sara Bolin, Dunavan Morris-Janzen, Alastair Mclellan, Ahmer Karimuddin, Victoria Archer, Zacharie Cloutier, Annie Berg, Tyler Mckechnie, Wojtek Wiercioch, Cagla Eskicioglu, Joëlle Labonté, Pascale Bisson, André Bégin, Sonia Gabriela Cheng-Oviedo, Yves Collin, Alisha R Fernandes, Intekhab Hossain, James Ellsmere, Charbel El-Kefraoui, Uyen Do, Andrew Miller, Araz Kouyoumdjian, David Cui, Elahe Khorasani, Tara Landry, Alexandre Amar-Zifkin, Lawrence Lee, Liane Feldman, Julio Fiore, Tran Michelle Au, Mark Oppenheimer, Sarvesh Logsetty, Raghad Alshammari, Mohammad Alabri, Ahmer Karimuddin, Carl Brown, Manoj J Raval, Paul Terry Phang, Samantha Bird, Zarrukh Baig, Nawaf Abu-Omar, Dilip Gill, Soumiya Suresh, Nathan Ginther, Marta Karpinski, Amandeep Ghuman, Peter R A Malik, Kameela Alibhai, Taryn Zabolotniuk, Isabelle Raîche, Nada Gawad, Sarah Mashal, Nathalie Boulanger, Larry Watt, Tarek Razek, Paola Fata, Jeremy Grushka, Evan G Wong, Intekhab Hossain, Maxim Landry, Sarah Mackey, Nicholas Fairbridge, Alison Greene, Mark Borgoankar, Cullen Kim, Diana Decarvalho, David Pace, Robin Wigen, Emily Walser, Jacob Davidson, Michael Dorward, Leanne Muszynski, Celia Dann, Natashia Seemann, Jennifer Lam, Kaitlyn Harding, A J Lowik, Caroline Guinard, Sam Wiseman, Odelle Ma, Valentin Mocanu, Andrea Lin, Shahzeer Karmali, David Bigam, Kaitlyn Harding, Grant Greaves, Brent Parker, Vu Nguyen, Azim Ahmed, Belinda Yee, Joël Perren, Mathew Norman, Morgan Grey, Rafael Perini, Fahd Jowhari, Adrian Bak, Jeremy Drung, Laura Allen, Daniele Wiseman, Bradley Moffat, Jeremy K H Lee, Catherine Mcguire, Isabelle Raîche, Mihaela Tudorache, Nada Gawad, Lily J Park, Flavia K Borges, Rahima Nenshi, Michael Jacka, Diane Heels-Ansdell, Marko Simunovic, Jessica Bogach, Pablo E Serrano, Lehana Thabane, P J Devereaux, Sauleha Farooq, Erica Lester, Janice Kung, Nori Bradley, Gordon Best, San Ahn, Lisa Zhang, Nicole Prince, Olivia Cheng-Boivin, Nieve Seguin, Harry Wang, Liam Quartermain, Sherry Tan, Jennifer Shamess, Mathilde Simard, Humberto Vigil, Isabelle Raîche, Mary Hanna, Husein Moloo, Riordan Azam, Gary Ko, Mayanne Zhu, Yanuga Raveendran, Christine Lam, Janet Tang, Amrit Bajwa, Marina Englesakis, Emma Reel, Jordan Cleland, Laura Snell, Gianni Lorello, Tulin Cil, Hilalion San Ahn, Catherine Dube, Daniel Mcisaac, David Smith, Alexie Leclerc, Jennifer Shamess, Alaa Rostom, Natalia Calo, Kednapa Thavorn, Husein Moloo, Simon Laplante, Louis Liu, Nadia Khan, Allan Okrainec, Odelle Ma, Andrea Lin, Valentin Mocanu, Shahzeer Karmali, David Bigam, Gladys Bruyninx, Ilinca Georgescu, Vladislav Khokhotva, Gaurav Talwar, Sahil Sharma, Tyler Mckechnie, Shuling Yang, Jigish Khamar, Dennis Hong, Aristithes Doumouras, Cagla Eskicioglu, Karina Spoyalo, Thais Ayres Rebello, Gyan Chhipi-Shrestha, Kelly Mayson, Rehan Sadiq, Kasun Hewage, Andrea Macneill, Susan Muncner, Mo Yu Li, Igor Mihajlovic, Mark Dykstra, Ryan Snelgrove, Haili Wang, Christina Schweitzer, Sam M Wiseman, Ivneet Garcha, Uzair Jogiat, Vickie Baracos, Simon R Turner, Dean Eurich, Heather Filafilo, Armin Rouhi, Alexandre Bédard, Eric L R Bédard, Yogita S Patel, Jacob A Alaichi, John Agzarian, Wael C Hanna, Yogita S Patel, Jacob A Alaichi, Esther Provost, Bobby Shayegan, Anthony Adili, Wael C Hanna, Nikkita Mistry, Anthony A Gatti, Yogita S Patel, Forough Farrokhyar, Feng Xie, Wael C Hanna, Kerrie A Sullivan, Forough Farrokhyar, Yogita S Patel, Moishe Liberman, Simon R Turner, Anne V Gonzalez, Rahul Nayak, Kazuhiro Yasufuku, Wael C Hanna, Nikkita Mistry, Anthony A Gatti, Yogita S Patel, Sam Cross, Forough Farrokhyar, Feng Xie, Wael C Hanna, Pier-Luc Haché, Geraud Galvaing, Serge Simard, Jocelyn Grégoire, Jean Bussières, Yves Lacasse, Sami Sassi, Catherine Champagne, Anne-Sophie Laliberté, Jin Yong Jeong, Uzair Jogiat, Hillary Wilson, Alexandre Bédard, Pam Blakely, Jerry Dang, Warren Sun, Shahzeer Karmali, Eric L R Bédard, Clarence Wong, Suhail Yaqoob Hakim, Samim Azizi, Ayman El-Menyar, Sandro Rizoli, Hassan Al-Thani, Alisha R Fernandes, Daniel French, Chao Li, James Ellsmere, Shiloh Gossen, Daniel French, Jon Bailey, Phil Tibbo, Candice Crocker, Adom Bondzi-Simpson, Tiago Ribeiro, Biniam Kidane, Michael Ko, Natalie Coburn, Girish Kulkarni, Julie Hallet, Ahmed Faidh Ramzee, Ibrahim Afifi, Mushrek Alani, Ayman El-Menyar, Sandro Rizoli, Hassan Al-Thani, Talat Chughtai, Bright Huo, Daria Manos, Zhaolin Xu, Katerina-Maria Kontouli, Samuel Chun, John Fris, Allison M R Wallace, Daniel G French, Catherine Giffin, Moishe Liberman, Gabriel Dayan, Anne-Sophie Laliberté, Kazuhiro Yasufuku, Alexander Farivar, Biniam Kidane, Cara Weessies, Madeline Robinson, Leeann Bednarek, Gordon Buduhan, Richard Liu, Lawrence Tan, Sadeesh K Srinathan, Biniam Kidane, Awrad Nasralla, Najib Safieddine, Sayf Gazala, Carmine Simone, Negar Ahmadi, Roy Hilzenrat, Maurice Blitz, Shaun Deen, Michael Humer, Anand Jugnauth, Gordon Buduhan, Laura Kerr, Simon Sun, Ikennah Browne, Yogita Patel, Wael Hanna, Brandon Loshusan, Arefin Shamsil, Michael D Naish, Mehdi Qiabi, Rahul Nayak, Rajni Patel, Richard Malthaner, Patel Pooja, Ribeiro Roberto, Hirsch Greg, French Daniel, Caroline Huynh, Sohat Sharma, Arthur Vieira, Fagun Jain, Yejun Lee, Dorsa Mousa-Doust, Jonice Costa, Michelle Mezei, Kristine Chapman, Hannah Briemberg, Kristin Jack, Kyle Grant, James Choi, John Yee, Anna L Mcguire, Sami Aftab Abdul, Francois Khazoom, Katherine Aw, Rebecca Lau, Sebastien Gilbert, Sudhir Sundaresan, Daniel Jones, Andrew J E Seely, Patrick J Villeneuve, Donna E Maziak, Claudie-Anne Pigeon, Jonathan Frigault, Sébastien Drolet, Ève-Marie Roy, Kristopher Bujold-Pitre, Valérie Courval, Lea Tessier, Tyler Mckechnie, Yung Lee, Lily Park, Nirupa Gangam, Cagla Eskicioglu, Zacharie Cloutier, Tyler Mckechnie, Victoria Archer, Lily Park, Jay Lee, Ashaka Patel, Dennis Hong, Cagla Eskicioglu, Simarpreet Ichhpuniani, Tyler Mckechnie, Geoffrey Elder, Andrew Chen, Kathleen Logie, Aristithes Doumouras, Dennis Hong, Randy Benko, Cagla Eskicioglu, Matthew Castelo, Lawrence Paszat, Bettina Hansen, Adena Scheer, Neil Faught, Lena Nguyen, Nancy Baxter, Sahil Sharma, Tyler Mckechnie, Jigish Khamar, Kathy Wu, Cagla Eskicioglu, Tyler Mckechnie, Jigish Khamar, Yung Lee, Léa Tessier, Edward Passos, Aristithes Doumouras, Dennis Hong, Cagla Eskicioglu, Tyler Mckechnie, Jigish Khamar, Anjali Sachdeva, Yung Lee, Dennis Hong, Cagla Eskicioglu, Linda Y N Fei, Antonio Caycedo, Sunil Patel, Teodora Popa, Lee Boudreau, Andrea Grin, Tao Wang, Jessica Lie, Ahmer Karimuddin, Carl Brown, Terry Phang, Manoj Raval, Amandeep Ghuman, Sydney Candy, Kareena Nanda, Christine Li, Ryan Snelgrove, Mark Dykstra, Karen Kroeker, Haili Wang, Haven Roy, Ramzi M Helewa, Garrett Johnson, Harminder Singh, Eric Hyun, Dana Moffatt, Ashley Vergis, Patricia Balmes, Terry Phang, Michael Guo, Jerry Liu, Haven Roy, Sandra Webber, Farhana Shariff, Ramzi M Helewa, Dave Hochman, Jason Park, Garrett Johnson, Eric Hyun, Stephan Robitaille, Anna Wang, Michael Maalouf, Naser Alali, Hiba Elhaj, Sender Liberman, Patrick Charlebois, Barry Stein, Liane Feldman, Julio F Fiore, Lawrence Lee, Richard Hu, Ariane Lacaille-Ranger, San Ahn, Mihaela Tudorache, Husein Moloo, Lara Williams, Isabelle Raîche, Reilly Musselman, Maddy Lemke, Laura Allen, Nadeesha Samarasinghe, Kelly Vogt, Muriel Brackstone, Terry Zwiep, Elizabeth Clement, Claire Lange, Armaghan Alam, Anu Ghuman, Ahmer Karimuddin, Terry Phang, Manoj Raval, Carl Brown, Elizabeth Clement, Jerry Liu, Anu Ghuman, Ahmer Karimuddin, Terry Phang, Manoj Raval, Carl Brown, Hanaa N Mughal, Muhammed A Gok, Usman A Khan, Hanaa N Mughal, Muhammed A Gok, Usman A Khan, Hanaa N Mughal, Muhammed A Gok, Usman A Khan, Hanaa N Mughal, Muhammed A Gok, Usman A Khan, Nicholas James, Terry Zwiep, Julie Ann Van Koughnett, Dora Laczko, Tyler Mckechnie, Shuling Yang, Kathy Wu, Sahil Sharma, Yung Lee, Lily Park, Aristithes Doumouras, Dennis Hong, Sameer Parpia, Mohit Bhandari, Cagla Eskicioglu, Tyler Mckechnie, Léa Tessier, Stephanie Lee, Tania Kazi, Praveen Sritharan, Yung Lee, Aristithes Doumouras, Dennis Hong, Cagla Eskicioglu, Tyler Mckechnie, Yung Lee, Dennis Hong, Joanna Dionne, Aristithes Doumouras, Sameer Parpia, Mohit Bhandari, Cagla Eskicioglu, Olivia Hershorn, Amandeep Ghuman, Ahmer Karimuddin, Carl Brown, Manoj Raval, P Terry Phang, Alex Chen, Marylise Boutros, Natasha Caminsky, Teodora Dumitra, Sarah Faris-Sabboobeh, Marie Demian, Georgia Rigas, Olivia Monton, Allister Smith, Jeongyoon Moon, Marie Demian, Richard Garfinkle, Carol-Ann Vasilevsky, Fateme Rajabiyazdi, Marylise Boutros, Emily Courage, Danielle Leblanc, Matthew Benesch, Kala Hickey, Katia Hartwig, Casey Armstrong, Reniel Engelbrecht, Mitchell Fagan, Mark Borgaonkar, David Pace, Jessica Shanahan, Jeongyoon Moon, Ebram Salama, Anna Wang, Mylène Arsenault, Nathalie Leon, Carmen Loiselle, Fatemeh Rajabiyazdi, Marylise Boutros, Kelly Brennan, Mandip Rai, Ameer Farooq, Chad Mcclintock, Weidong Kong, Sunil Patel, Neyla Boukhili, Natasha Caminsky, Sarah Faris-Sabboobeh, Marie Demian, Marylise Boutros, Tiffany Paradis, Stephan Robitaille, Teodora Dumitra, A Sender Liberman, Patrick Charlebois, Barry Stein, Julio F Fiore, Liane S Feldman, Lawrence Lee, Terry Zwiep, Deborah Abner, Tarik Alam, Elaine Beyer, Michele Evans, Mary Hill, Debra Johnston, Karla Lohnes, Svea Menard, Nicole Pitcher, Kelly Sair, Bev Smith, Bonita Yarjau, Kimberly Leblanc, Nadeesha Samarasinghe, Ahmer A Karimuddin, Carl J Brown, P Terry Phang, Manoj J Raval, Karen Macdonell, Amandeep Ghuman, Alexandra Harvey, P Terry Phang, Ahmer Karimuddin, Carl J Brown, Manoj J Raval, Amandeep Ghuman, Olivia Hershorn, Amandeep Ghuman, Ahmer Karimuddin, Manoj Raval, P Terry Phang, Carl Brown, Kathleen Logie, Tyler Mckechnie, Yung Lee, Dennis Hong, Cagla Eskicioglu, Mirna Matta, Laura Baker, Jessica Hopkins, Ryan Rochon, Donald Buie, Anthony Maclean, Amandeep Ghuman, Jason Park, Ahmer A Karimuddin, P Terry Phang, Manoj J Raval, Carl J Brown, Ameer Farooq, Amandeep Ghuman, Sunil Patel, Hugh Macdonald, Ahmer Karimuddin, Manoj Raval, P Terry Phang, Carl Brown, Vanessa Wiseman, Kelly Brennan, Sunil Patel, Ameer Farooq, Shaila Merchant, Weidong Kong, Chad Mcclintock, Chris Booth, Tim Hann, Alessandro Ricci, Sunil Patel, Kelly Brennan, Vanessa Wiseman, Chad Mcclintock, Weidong Kong, Ameer Farooq, Rohan Kakkar, Olivia Hershorn, Manoj Raval, P Terry Phang, Ahmer Karimuddin, Amandeep Ghuman, Carl Brown, Vanessa Wiseman, Ameer Farooq, Sunil Patel, Roy Hajjar, Emmanuel Gonzalez, Gabriela Fragoso, Manon Oliero, Ahmed Amine Alaoui, Hervé Vennin Rendos, Souad Djediai, Thibault Cuisiniere, Patrick Laplante, Claire Gerkins, Ayodeji Samuel Ajayi, Khoudia Diop, Nassima Taleb, Sophie Thérien, Frédéricke Schampaert, Hefzi Alratrout, François Dagbert, Rasmy Loungnarath, Herawaty Sebajang, Frank Schwenter, Ramses Wassef, Richard Ratelle, Éric Debroux, Jean-François Cailhier, Bertrand Routy, Borhane Annabi, Nicholas J B Brereton, Carole Richard, Manuela M Santos, Tamara Gimon, Helen Macrae, Anthony De Buck Van Overstraeten, Mantaj Brar, Sami Chadi, Erin Kennedy, Laura Baker, Jessica Hopkins, Ryan Rochon, Donald Buie, Anthony Maclean, Lily J Park, Victoria Archer, Tyler Mckechnie, Yung Lee, Daniel Mcisaac, Pavel Rashanov, Cagla Eskicioglu, Husein Moloo, P J Devereaux, Rehab Alsayari, Tyler Mckechnie, Simarpreet Ichhpuniani, Yung Lee, Cagla Eskicioglu, Roy Hajjar, Manon Oliero, Gabriela Fragoso, Ayodeji Samuel Ajayi, Ahmed Amine Alaoui, Hervé Vennin Rendos, Annie Calvé, Thibault Cuisinière, Claire Gerkins, Sophie Thérien, Nassima Taleb, François Dagbert, Herawaty Sebajang, Rasmy Loungnarath, Frank Schwenter, Richard Ratelle, Ramses Wassef, Eric Debroux, Carole Richard, Manuela M Santos, Erin Kennedy, Marko Simunovic, Selina Schmocker, Carl Brown, Anthony Maclean, Sender Liberman, Sébastien Drolet, Katerina Neumann, Peter Stotland, Kartik Jhaveri, Richard Kirsch, Hafssah Alnajem, Huseen Alibrahim, Christian Giundi, Alex Chen, Georgia Rigas, Haroon Munir, Ali Safar, Sarah Sabboobeh, Jessica Holland, Marylise Boutros, Erin Kennedy, Carole Richard, Marko Simunovic, Selina Schmocker, Carl Brown, Anthony Maclean, Sender Liberman, Sébastien Drolet, Katerina Neumann, Peter Stotland, Kartik Jhaveri, Richard Kirsch, Gladys Bruyninx, Dilip Gill, Rehab Alsayari, Tyler Mckechnie, Yung Lee, Dennis Hong, Cagla Eskicioglu, Lisa Zhang, Sean Abtahi, Allison Chhor, Gordon Best, Isabelle Raîche, Reilly Musselman, Lara Williams, Husein Moloo, Natasha Grace Caminsky, Jenny Jeongyoon Moon, Daniel Marinescu, Allison Pang, Carol-Ann Vasilevsky, Marylise Boutros, Mohammed Al-Abri, Elliott Gee, Ahmer Karimuddin, P Terry Phang, Carl Brown, Manoj Raval, Amandeep Ghuman, Nina Morena, Libby Ben-Zvi, Victoria Hayman, Mary Hou, Diana Nguyen, Carrie A Rentschler, Ari N Meguerditchian, Zuhaib Mir, Linda Fei, Sandra Mckeown, Rachelle Dinchong, Nicholas Cofie, Nancy Dalgarno, Rona Cheifetz, Shaila Merchant, Alisha Jaffer, Carolyn Cullinane, Gerard Feeney, Amirhossein Jalali, Anne Merrigan, Chwanrow Baban, Juliette Buckley, Shona Tormey, Matthew Benesch, Rongrong Wu, Kazuaki Takabe, Matthew Benesch, Shalana O'Brien, Karineh Kazazian, Ali Hosni Abdalaty, Christine Brezden, Ron Burkes, Eric Chen, Anand Govindarajan, Raymond Jang, Erin Kennedy, Jelena Lukovic, Aruz Mesci, Fayez Quereshy, Carol Swallow, Sami Chadi, Rogeh Habashi, Jesse Pasternak, Wanda Marini, Weiyue Zheng, Kiichi Murakami, Pamela Ohashi, Michael Reedijk, Richard Hu, Victoria Ivankovic, Lewis Han, Louise Gresham, Ranjeeta Mallick, Rebecca Auer, Tiago Ribeiro, Adom Bondzi-Simpson, Natalie Coburn, Julie Hallet, Tulin Cil, Adam Fontebasso, Alex Lee, Ericka Bernard-Bedard, Boaz Wong, Heidi Li, Elysia Grose, Olivier Brandts-Longtin, Katie Aw, Rebecca Lau, Ahmad Abed, James Stevenson, Rahat Sheikh, Richard Chen, Stephanie Johnson-Obaseki, Carolyn Nessim, Rachel Liu Hennessey, Adam T Meneghetti, Michael Bildersheim, Antoine Bouchard-Fortier, Gregg Nelson, Lloyd Mack, Farhad Ghasemi, Mahtab Malekian Naeini, Armen Parsyan, Yuvreet Kaur, Andrea Covelli, Fayez Quereshy, Elena Elimova, Elan Panov, Jelena Lukovic, James Brierley, Bev Burnett, Carol Swallow, Ashley Eom, David Kirkwood, Nicole Hodgson, Aristithes Doumouras, Jessica Bogach, Timothy Whelan, Mark Levine, Elena Parvez, Deanna Ng, Karineh Kazazian, Kiera Lee, Yi Qing Lu, Dae Kyum Kim, Marco Magalhaes, Emma Grigor, Angel Arnaout, Jing Zhang, Elliott K Yee, Julie Hallet, Nicole J Look Hong, Lena Nguyen, Natalie Coburn, Frances C Wright, Sonal Gandhi, Katarzyna J Jerzak, Andrea Eisen, Amanda Roberts, Daniel Ben Lustig, May Lynn Quan, Tien Phan, Antoine Bouchard-Fortier, Jeff Cao, Conrad Bayley, Akie Watanabe, Susan Yao, Eitan Prisman, Gary Groot, Elliot Mitmaker, Ross Walker, Jonn Wu, Jesse Pasternak, Chi Kien Lai, Antoine Eskander, Jonathan Wasserman, Frederic Mercier, Kathryn Roth, Sabrina Gill, Carlos Villamil, David Goldstein, Vicki Munro, Alok Pathak, Debon Lee, Anne Nguyen, Sam Wiseman, Luckshi Rajendran, Marco Claasen, Tommy Ivanics, Nazia Selzner, Ian Mcgilvray, Mark Cattral, Anand Ghanekar, Carol-Anne Moulton, Trevor Reichman, Chaya Shwaartz, Ur Metser, Ron Burkes, Erin Winter, Steven Gallinger, Gonzalo Sapisochin, Juan Glinka, Evelyn Waugh, Ken Leslie, Anton Skaro, Epharaim Tang, Juan Glinka, Janyssa Charbonneau, Alexandre Brind'amour, Alexis F Turgeon, Sarah O'Connor, Thomas Couture, Yifan Wang, Osamu Yoshino, Michael Driedger, Michael Beckman, Dionisios Vrochides, John Martinie, Abdulrahman Alabduljabbar, Maral Aali, Christopher Lightfoot, Boris Gala-Lopez, Maud Labelle, Frédérick D'Aragon, Yves Collin, Dhruvin Hirpara, Jonathan Irish, Mohammed Rashid, Tharsiya Martin, Alice Zhu, Leah Mcknight, Amber Hunter, Shiva Jayaraman, Alice Wei, Natalie Coburn, Frances Wright, Katlin Mallette, Ahmad Elnahas, Nawar Alkhamesi, Christopher Schlachta, Jeffrey Hawel, Ephraim Tang, Subin Punnen, Jade Zhong, Yuwei Yang, Lucas Streith, Jordan Yu, Stephen Chung, Peter Kim, Stephanie Chartier-Plante, Maja Segedi, Michael Bleszynski, Molly White, Melanie E Tsang, Shiva Jayaraman, Kimberley Lam-Tin-Cheung, Shiva Jayaraman, Melanie Tsang, Brittany Greene, Panthea Pouramin, Susan Allen, David Evan Nelson, Mark Walsh, Julien Côté, Rolando Rebolledo, Mélanie Borie, Ahmed Menaouar, Carolyne Landry, Marylène Plasse, Richard Létourneau, Michel Dagenais, Zhixia Rong, André Roy, Eve Beaudry-Simoneau, Franck Vandenbroucke-Menu, Réal Lapointe, Pasquale Ferraro, Shant Der Sarkissian, Nicolas Noiseux, Simon Turcotte, Yara Haddad, Antoine Bernard, Clara Lafortune, Nathalie Brassard, Annie Roy, Claude Perreault, Gaétan Mayer, Mieczyslaw Marcinkiewicz, Majambu Mbikay, Michel Chrétien, Simon Turcotte, Evelyn Waugh, Lynne Sinclair, Juan Glinka, Elizabeth Shin, Crystal Engelage, Ephraim Tang, Anton Skaro, Hala Muaddi, Jennifer Flemming, Bettina Hansen, Laura Dawson, Grainne O'Kane, Jordan Feld, Gonzalo Sapisochin, Alice Zhu, Shiva Jayaraman, Sean Cleary, Anthonie Hamel, Claudie-Anne Pigeon, Camille Marcoux, Thanh-Quan Philips Ngo, Isabelle Deshaies, Sarah Mansouri, Nawal Amhis, Maxime Léveillé, Christine Lawson, Carol Achard, Carolina Ilkow, Yves Collin, Lee-Hwa Tai, Lily Park, Christopher Griffiths, Daniel D'Souza, Felipe Rodriguez, Tyler Mckechnie, Pablo E Serrano, Rachel Liu Hennessey, Yuwei Yang, Adam T Meneghetti, O Neely M Panton, Chieh Jack Chiu, Oscar Henao, Fernando Spencer Netto, Marguerite Mainprize, Rachel Liu Hennessey, Chieh Jack Chiu, Rachel Liu Hennessey, Chieh Jack Chiu, Sukhdeep Jatana, Kevin Verhoeff, Valentin Mocanu, Uzair Jogiat, Daniel Birch, Shahzeer Karmali, Noah Switzer, Alexandra Hetherington, Kevin Verhoeff, Valentin Mocanu, Daniel Birch, Shahzeer Karmali, Noah Switzer, Ali Safar, Najla Al-Ghaithi, Phil Vourtzoumis, Sebastian Demyttenaere, Olivier Court, Amin Andalib, Hillary Wilson, Kevin Verhoeff, Jerry Dang, Janice Kung, Noah Switzer, Daniel Birch, Karen Madsen, Shahzeer Karmali, Valentin Mocanu, Ted Wu, Wenjing He, Ashley Vergis, Krista Hardy, Marta Zmudzinski, Felica Daenick, Janice Linton, Marta Zmudzinski, Melinda Fowler-Woods, Wenjing He, Amanda Fowler-Woods, Geraldine Shingoose, Ashley Vergis, Krista Hardy, Yung Lee, Aristithes Doumouras, Amber Molnar, Francis Nguyen, Dennis Hong, Romano Schneider, Andras B Fecso, Priya Sharma, Azusa Maeda, Timothy Jackson, Allan Okrainec, Cheynne Mclean, Valentin Mocanu, Daniel Birch, Shahzeer Karmali, Noah Switzer, Sarah Macvicar, Jerry Dang, Valentin Mocanu, Kevin Verhoeff, Uzair Jogiat, Shahzeer Karmali, Daniel Birch, Noah Switzer, Steffane Mclennan, Kevin Verhoeff, Kieran Purich, Jerry Dang, Janice Kung, Valentin Mocanu, Steffane Mclennan, Kevin Verhoeff, Valentin Mocanu, Uzair Jogiat, Daniel W Birch, Shahzeer Karmali, Noah J Switzer, Lisa Jeffery, Hamish Hwang, Alexis Ryley, Morgan Schellenberg, Natthida Owattanapanich, Brent Emigh, Chance Nichols, Joshua Dilday, Chaiss Ugarte, Atsushi Onogawa, Kazuhide Matsushima, Matthew J Martin, Kenji Inaba, Morgan Schellenberg, Brent Emigh, Chance Nichols, Joshua Dilday, Chaiss Ugarte, Atsushi Onogawa, Doug Shapiro, Daniel Im, Kenji Inaba, Morgan Schellenberg, Natthida Owattanapanich, Chaiss Ugarte, Lydia Lam, Matthew J Martin, Kenji Inaba, Joao Rezende-Neto, Sunil Patel, Lisa Zhang, Zuhaib Mir, Madeline Lemke, William Leeper, Laura Allen, Eric Walser, Kelly Vogt, Tiago Ribeiro, Sarah Bateni, Adom Bondzi-Simpson, Natalie Coburn, Julie Hallet, Victoria Barabash, Austin Barr, Wing Chan, Suhail Yaqoob Hakim, Ayman El-Menyar, Sandro Rizoli, Hassan Al-Thani, Hanaa N Mughal, Mumtaz Bhugio, Muhammed A Gok, Usman A Khan, Ahmed Warraich, Lawrence Gillman, Markus Ziesmann, Jovana Momic, Nouf Yassin, Mella Kim, Amy Makish, Eric Walser, Shane Smith, Ian Ball, Brad Moffat, Neil Parry, Kelly Vogt, Alex Lee, Jenna Kroeker, David Evans, Nahal Fansia, Chana Notik, Evan G Wong, Guire Coyle, David Seben, Jaiden Smith, Brandy Tanenbaum, Corey Freedman, Avery Nathens, Robert Fowler, Prachikumari Patel, Tim Elrick, Meghan Ewing, Steven Di Marco, Tarek Razek, Jeremy Grushka, Evan G Wong, Lily J Park, Flavia K Borges, Rahima Nenshi, Pablo E Serrano, Paul Engels, Kelly Vogt, Emily Di Sante, Jessica Vincent, Kate Tsiplova, P J Devereaux, Gaurav Talwar, Joanna Dionne, Tyler Mckechnie, Yung Lee, Tania Kazi, Abdullah El-Sayes, Jessica Bogach, Dennis Hong, Cagla Eskicioglu, Matthew Connell, Amanda Klooster, Jenna Beck, Kevin Verhoeff, Matt Strickland, Ram Anantha, Lilly Groszman, Natasha G Caminsky, Larry Watt, Nathalie Boulanger, Tarek Razek, Jeremy Grushka, Steven Di Marco, Evan G Wong, Rachel Livergant, Brooke Mcdonald, Catherine Binda, Shreya Luthra, Nicole Ebert, Ryan Falk, Emilie Joos

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Payer Reimbursement Practices And Incentives For Improving Interpretation Of Germline Genetic Testing, Patricia Deverka, Janis Geary, Charles Mathews, Matan Cohen, Gillian Hooker, Mary Majumder, Zuzana Skvarkova, Robert Cook-Deegan

Center for Medical Ethics and Health Policy Staff Publications

Germline genetic testing for inherited cancer risk has shifted to multi-gene panel tests (MGPTs). While MGPTs detect more pathogenic variants, they also detect more variants of uncertain significance (VUSs) that increase the possibility of harms such as unnecessary surgery. Data sharing by laboratories is critical to addressing the VUS problem. However, barriers to sharing and an absence of incentives have limited laboratory contributions to the ClinVar database. Payers can play a crucial role in the expansion of knowledge and effectiveness of genetic testing. Current policies affecting MGPT reimbursement are complex and create perverse incentives. Trends in utilization and coverage for …

Ai In The Hands Of Imperfect Users, Kristin M Kostick-Quenet, Sara Gerke

Center for Medical Ethics and Health Policy Staff Publications

As the use of artificial intelligence and machine learning (AI/ML) continues to expand in healthcare, much attention has been given to mitigating bias in algorithms to ensure they are employed fairly and transparently. Less attention has fallen to addressing potential bias among AI/ML's human users or factors that influence user reliance. We argue for a systematic approach to identifying the existence and impacts of user biases while using AI/ML tools and call for the development of embedded interface design features, drawing on insights from decision science and behavioral economics, to nudge users towards more critical and reflective decision making using …

Exome Array Analysis Of 9721 Ischemic Stroke Cases From The Sign Consortium, Huichun Xu, Kevin Nguyen, Brady J Gaynor, Hua Ling, Wei Zhao, Patrick F Mcardle, Timothy D O'Connor, O Colin Stine, Kathleen A Ryan, Megan Lynch, Jennifer A Smith, Jessica D Faul, Yao Hu, Jeffrey W Haessler, Myriam Fornage, Charles Kooperberg, On Behalf Of The Trans-Omics For Precision Medicine Topmed Stroke Working Group, James A Perry, Charles C Hong, John W Cole, Elizabeth Pugh, Kimberly Doheny, Sharon L R Kardia, David R Weir, Steven J Kittner, Braxton D Mitchell, Sign Consortium

Faculty, Staff and Student Publications

Recent genome wide association studies have identified 89 common genetic variants robustly associated with ischemic stroke and primarily located in non-coding regions. To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium. We identified 15 coding variants significantly associated with all ischemic stroke at array-wide threshold (i.e., p < 4.7 × 10-7), including two common SNPs in ABO that have previously been associated with stroke. Twelve of the remaining 13 variants were extremely rare …

Genetic Diversity Fuels Gene Discovery For Tobacco And Alcohol Use, Gretchen R B Saunders, Xingyan Wang, Fang Chen, Seon-Kyeong Jang, Mengzhen Liu, Chen Wang, Shuang Gao, Yu Jiang, Chachrit Khunsriraksakul, Jacqueline M Otto, Clifton Addison, Masato Akiyama, Christine M Albert, Fazil Aliev, Alvaro Alonso, Donna K Arnett, Allison E Ashley-Koch, Aneel A Ashrani, Kathleen C Barnes, R Graham Barr, Traci M Bartz, Diane M Becker, Lawrence F Bielak, Emelia J Benjamin, Joshua C Bis, Gyda Bjornsdottir, John Blangero, Eugene R Bleecker, Jason D Boardman, Eric Boerwinkle, Dorret I Boomsma, Meher Preethi Boorgula, Donald W Bowden, Jennifer A Brody, Brian E Cade, Daniel I Chasman, Sameer Chavan, Yii-Der Ida Chen, Zhengming Chen, Iona Cheng, Michael H Cho, Hélène Choquet, John W Cole, Marilyn C Cornelis, Francesco Cucca, Joanne E Curran, Mariza De Andrade, Danielle M Dick, Anna R Docherty, Ravindranath Duggirala, Charles B Eaton, Marissa A Ehringer, Tõnu Esko, Jessica D Faul, Lilian Fernandes Silva, Edoardo Fiorillo, Myriam Fornage, Barry I Freedman, Maiken E Gabrielsen, Melanie E Garrett, Sina A Gharib, Christian Gieger, Nathan Gillespie, David C Glahn, Scott D Gordon, Charles C Gu, Dongfeng Gu, Daniel F Gudbjartsson, Xiuqing Guo, Jeffrey Haessler, Michael E Hall, Toomas Haller, Kathleen Mullan Harris, Jiang He, Pamela Herd, John K Hewitt, Ian Hickie, Bertha Hidalgo, John E Hokanson, Christian Hopfer, Joukejan Hottenga, Lifang Hou, Hongyan Huang, Yi-Jen Hung, David J Hunter, Kristian Hveem, Shih-Jen Hwang, Chii-Min Hwu, William Iacono, Marguerite R Irvin, Yon Ho Jee, Eric O Johnson, Yoonjung Y Joo, Eric Jorgenson, Anne E Justice, Yoichiro Kamatani, Robert C Kaplan, Jaakko Kaprio, Sharon L R Kardia, Matthew C Keller, Tanika N Kelly, Charles Kooperberg, Tellervo Korhonen, Peter Kraft, Kenneth Krauter, Johanna Kuusisto, Markku Laakso, Jessica Lasky-Su, Wen-Jane Lee, James J Lee, Daniel Levy, Liming Li, Kevin Li, Yuqing Li, Kuang Lin, Penelope A Lind, Chunyu Liu, Donald M Lloyd-Jones, Sharon M Lutz, Jiantao Ma, Reedik Mägi, Ani Manichaikul, Nicholas G Martin, Ravi Mathur, Nana Matoba, Patrick F Mcardle, Matt Mcgue, Matthew B Mcqueen, Sarah E Medland, Andres Metspalu, Deborah A Meyers, Iona Y Millwood, Braxton D Mitchell, Karen L Mohlke, Matthew Moll, May E Montasser, Alanna C Morrison, Antonella Mulas, Jonas B Nielsen, Kari E North, Elizabeth C Oelsner, Yukinori Okada, Valeria Orrù, Nicholette D Palmer, Teemu Palviainen, Anita Pandit, S Lani Park, Ulrike Peters, Annette Peters, Patricia A Peyser, Tinca J C Polderman, Nicholas Rafaels, Susan Redline, Robert M Reed, Alex P Reiner, John P Rice, Stephen S Rich, Nicole E Richmond, Carol Roan, Jerome I Rotter, Michael N Rueschman, Valgerdur Runarsdottir, Nancy L Saccone, David A Schwartz, Aladdin H Shadyab, Jingchunzi Shi, Suyash S Shringarpure, Kamil Sicinski, Anne Heidi Skogholt, Jennifer A Smith, Nicholas L Smith, Nona Sotoodehnia, Michael C Stallings, Hreinn Stefansson, Kari Stefansson, Jerry A Stitzel, Xiao Sun, Moin Syed, Ruth Tal-Singer, Amy E Taylor, Kent D Taylor, Marilyn J Telen, Khanh K Thai, Hemant Tiwari, Constance Turman, Thorarinn Tyrfingsson, Tamara L Wall, Robin G Walters, David R Weir, Scott T Weiss, Wendy B White, John B Whitfield, Kerri L Wiggins, Gonneke Willemsen, Cristen J Willer, Bendik S Winsvold, Huichun Xu, Lisa R Yanek, Jie Yin, Kristin L Young, Kendra A Young, Bing Yu, Wei Zhao, Wei Zhou, Sebastian Zöllner, Luisa Zuccolo, 23andme Research Team, Biobank Japan Project, Chiara Batini, Andrew W Bergen, Laura J Bierut, Sean P David, Sarah A Gagliano Taliun, Dana B Hancock, Bibo Jiang, Marcus R Munafò, Thorgeir E Thorgeirsson, Dajiang J Liu, Scott Vrieze

Faculty, Staff and Student Publications

Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1-4. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries5. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power …

Psychiatric Polygenic Risk Scores: Child And Adolescent Psychiatrists’ Knowledge, Attitudes, And Experiences, Stacey Pereira, Katrina A Muñoz, Brent J Small, Takahiro Soda, Laura N Torgerson, Clarissa E Sanchez, Jehannine Austin, Eric A Storch, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Psychiatric polygenic risk scores (PRS) have potential utility in psychiatric care and prevention, but there are concerns about their implementation. We surveyed 960 US-based practicing child and adolescent psychiatrists' (CAP) about their experiences, perspectives, and potential uses of psychiatric PRS. While 23% of CAP reported that they had never heard of PRS, 10 % of respondents have had a patient/family bring PRS to them and 4% have generated PRS for patients. Though 25% stated they would request PRS if a patient/caregiver asked, 35% indicated that nothing would prompt them to request PRS. Most respondents (54%) believed psychiatric PRS are currently …

Genetics And Epigenetics Of Self-Injurious Thoughts And Behaviors: Systematic Review Of The Suicide Literature And Methodological Considerations, Salahudeen Mirza, Anna R Docherty, Amanda Bakian, Hilary Coon, Jair C Soares, Consuelo Walss-Bass, Gabriel R Fries

Faculty, Staff and Student Publications

Suicide is a multifaceted and poorly understood clinical outcome, and there is an urgent need to advance research on its phenomenology and etiology. Epidemiological studies have demonstrated that suicidal behavior is heritable, suggesting that genetic and epigenetic information may serve as biomarkers for suicide risk. Here we systematically review the literature on genetic and epigenetic alterations observed in phenotypes across the full range of self-injurious thoughts and behaviors (SITB). We included 577 studies focused on genome-wide and epigenome-wide associations, candidate genes (SNP and methylation), noncoding RNAs, and histones. Convergence of specific genes is limited across units of analysis, although pathway-based …

Psychiatric Polygenic Risk Scores: Child And Adolescent Psychiatrists’ Knowledge, Attitudes, And Experiences, Stacey Pereira, Katrina A Muñoz, Brent J Small, Takahiro Soda, Laura N Torgerson, Clarissa E Sanchez, Jehannine Austin, Eric A Storch, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Psychiatric polygenic risk scores (PRS) have potential utility in psychiatric care and prevention, but there are concerns about their implementation. We surveyed 960 US-based practicing child and adolescent psychiatrists' (CAP) about their experiences, perspectives, and potential uses of psychiatric PRS. While 23% of CAP reported that they had never heard of PRS, 10 % of respondents have had a patient/family bring PRS to them and 4% have generated PRS for patients. Though 25% stated they would request PRS if a patient/caregiver asked, 35% indicated that nothing would prompt them to request PRS. Most respondents (54%) believed psychiatric PRS are currently …

Nasal Nitric Oxide Levels: Improving The Diagnosis Of Primary Ciliary Dyskinesia In Puerto Rico, Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús M Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo A Mosquera

Faculty, Staff and Student Publications

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the RSPH4A (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the …

Recommendations For Whole Genome Sequencing In Diagnostics For Rare Diseases, Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle Van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole De Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia Van Der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Marjan M Weiss

Center for Medical Ethics and Health Policy Staff Publications

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation …

A Large-Scale Genome-Wide Gene-Gene Interaction Study Of Lung Cancer Susceptibility In Europeans With A Trans-Ethnic Validation In Asians, Ruyang Zhang, Sipeng Shen, Yongyue Wei, Ying Zhu, Yi Li, Jiajin Chen, Jinxing Guan, Zoucheng Pan, Yuzhuo Wang, Meng Zhu, Junxing Xie, Xiangjun Xiao, Dakai Zhu, Yafang Li, Demetrios Albanes, Maria Teresa Landi, Neil E Caporaso, Stephen Lam, Adonina Tardon, Chu Chen, Stig E Bojesen, Mattias Johansson, Angela Risch, Heike Bickeböller, H-Erich Wichmann, Gadi Rennert, Susanne Arnold, Paul Brennan, James D Mckay, John K Field, Sanjay S Shete, Loic Le Marchand, Geoffrey Liu, Angeline S Andrew, Lambertus A Kiemeney, Shan Zienolddiny-Narui, Annelie Behndig, Mikael Johansson, Angela Cox, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Juncheng Dai, Hongxia Ma, Yang Zhao, Zhibin Hu, Rayjean J Hung, Christopher I Amos, Hongbing Shen, Feng Chen, David C Christiani

Faculty, Staff and Students Publications

INTRODUCTION: Although genome-wide association studies have been conducted to investigate genetic variation of lung tumorigenesis, little is known about gene-gene (G × G) interactions that may influence the risk of non-small cell lung cancer (NSCLC).

METHODS: Leveraging a total of 445,221 European-descent participants from the International Lung Cancer Consortium OncoArray project, Transdisciplinary Research in Cancer of the Lung and UK Biobank, we performed a large-scale genome-wide G × G interaction study on European NSCLC risk by a series of analyses. First, we used BiForce to evaluate and rank more than 58 billion G × G interactions from 340,958 single-nucleotide polymorphisms …

Integrated Dna Copy Number And Expression Profiling Identifies Igf1r As A Prognostic Biomarker In Pediatric Osteosarcoma, Aaron M Taylor, Jiayi M Sun, Alexander Yu, Horatiu Voicu, Jianhe Shen, Donald A Barkauskas, Timothy J Triche, Julie M Gastier-Foster, Tsz-Kwong Man, Ching C Lau

Center for Medical Ethics and Health Policy Staff Publications

Osteosarcoma is a primary malignant bone tumor arising from bone-forming mesenchymal cells in children and adolescents. Despite efforts to understand the biology of the disease and identify novel therapeutics, the survival of osteosarcoma patients remains dismal. We have concurrently profiled the copy number and gene expression of 226 osteosarcoma samples as part of the Strategic Partnering to Evaluate Cancer Signatures (SPECS) initiative. Our results demonstrate the heterogeneous landscape of osteosarcoma in younger populations by showing the presence of genome-wide copy number abnormalities occurring both recurrently among samples and in a high frequency. Insulin growth factor receptor 1 (IGF1R) is a …

A Novel, De Novo Intronic Variant In Pogz Causes White-Sutton Syndrome, Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick, Sarah Nicholas, Richard A Lewis, Undiagnosed Diseases Network, Carlos A Bacino, Daryl A Scott, Brendan Lee, Vernon Reid Sutton, Lorraine Potocki, Lindsay C Burrage

Center for Medical Ethics and Health Policy Staff Publications

White-Sutton syndrome (WHSUS), which is caused by heterozygous pathogenic variants in POGZ, is characterized by a spectrum of intellectual disabilities and global developmental delay with or without features of autism spectrum disorder. Additional features may include hypotonia, behavioral abnormalities, ophthalmic abnormalities, hearing loss, sleep apnea, microcephaly, dysmorphic facial features, and rarely, congenital diaphragmatic hernia (CDH). We present a 6-year-old female with features of WHSUS, including CDH, but with nondiagnostic clinical trio exome sequencing. Exome sequencing reanalysis revealed a heterozygous, de novo, intronic variant in POGZ (NM_015100.3:c.2546-20T>A). RNA sequencing revealed that this intronic variant leads to skipping of exon 18. …

Knowledge, Attitudes, Willingness To Pay, And Patient Preferences About Genetic Testing And Subsequent Risk Management For Cancer Prevention, Fangjian Guo, Jacqueline M Hirth, Erika L Fuchs, Leslie E Cofie, Veronica Brown, Yong-Fang Kuo, Maria E Fernandez, Abbey B Berenson

Faculty, Staff and Student Publications

Knowledge, attitudes, and patient preferences about genetic testing and subsequent risk management for cancer prevention among average risk populations are understudied, especially among Hispanics. This study was to assess these items by conducting an in-person survey in this understudied population. We conducted in-person surveys using a self-administered, structured questionnaire among young women in 2017. Survey questions were adapted from other validated surveys. This study had 677 participants in the final analyses. Data were collected in 2017 and analyzed in 2018 and 2019. Participants had little knowledge about genes or breast cancer risk, but most felt that genetic testing for cancer …

Guideline For Feedback Of Individual Genetic Research Findings For Genomics Research In Africa, Alice Matimba, Stuart Ali, Katherine Littler, Ebony Madden, Patricia Marshall, Sheryl Mccurdy, Victoria Nembaware, Laura Rodriguez, Janet Seeley, Paulina Tindana, Aminu Yakubu, Jantina De Vries, H3africa Ethics And Community Engagement Working Group

Faculty, Staff and Student Publications

As human genomics research in Africa continues to generate large amounts of data, ethical issues arise regarding how actionable genetic information is shared with research participants. The Human Heredity and Health in Africa Consortium (H3Africa) Ethics and Community Engagement Working group acknowledged the need for such guidance, identified key issues and principles relevant to genomics research in Africa and developed a practical guideline for consideration of feeding back individual genetic results of health importance in African research projects. This included a decision flowchart, providing a logical framework to assist in decision-making and planning for human genomics research projects. Although presented …

A Mixed-Methods Protocol To Develop And Validate A Stewardship Maturity Matrix For Human Genomic Data In The Cloud, Vasiliki Rahimzadeh, Ge Peng, Mildred Cho

Center for Medical Ethics and Health Policy Staff Publications

This article describes a mixed-methods protocol to develop and test the implementation of a stewardship maturity matrix (SMM) for repositories which govern access to human genomic data in the cloud. It is anticipated that the cloud will host most human genomic and related health datasets generated as part of publicly funded research in the coming years. However, repository managers lack practical tools for identifying what stewardship outcomes matter most to key stakeholders as well as how to track progress on their stewardship goals over time. In this article we describe a protocol that combines Delphi survey methods with SMM modeling …

Integrating Patient-Reported Outcomes Into Clinical Genetic Testing For Familial Hypercholesterolemia, Rachele M. Hendricks-Sturrup, Robert Block, Christine Y. Lu

Journal of Patient-Centered Research and Reviews

Patient-reported outcomes (PROs) and PRO measures (PROMs) are often used to help clinicians and researchers understand patients’ personal concerns, feelings, experiences, and perspectives following the implementation of an intervention. Notably, PROs and PROMs can inform health systems, health policy, and payers on the utility of clinical genetic testing based on each patient’s personal values, perspectives, and potential health behaviors subsequent to testing. In this topic synopsis, we discuss the underexplored role of and implications for PROs and PROMs following genetic testing for familial hypercholesterolemia (FH), an autosomal dominant genetic disorder of cholesterol metabolism that can lead to highly premature fatal …

Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris

Library Philosophy and Practice (e-journal)

The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the …

Genetics Of Smoking Behaviors In American Indians, Jeffrey A Henderson, Dedra S Buchwald, Barbara V Howard, Patricia Nez Henderson, Yafang Li, Rachel F Tyndale, Christopher I Amos, Olga Y Gorlova, Collaborative To Improve Native Cancer Outcomes (Cinco), A P50 Center For Population Health And Health Disparities Program Project Sponsored By The National Cancer Institute

Faculty, Staff and Students Publications

BACKGROUND: The smoking behavior of American Indians (AI) differs from that of non-Hispanic whites (NHW). Typically light smokers, cessation interventions in AIs are generally less effective. To develop more effective cessation programs for AIs, clinicians, researchers, and public health workers need a better understanding of the genetic factors involved in their smoking behavior. Our aim was to assess whether SNPs associated with smoking behavior in NHWs are also associated with smoking in AIs.

METHODS: We collected questionnaire data on smoking behaviors and analyzed blood and saliva samples from two Tribal populations with dramatically different cultures and smoking prevalence, one in …

De Novo Frameshift Variants In The Neuronal Splicing Factor Nova2 Result In A Common C-Terminal Extension And Cause A Severe Form Of Neurodevelopmental Disorder, Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Maria-Victoria Hinckelmann, Frederic Tran Mau-Them, Chantal Sellier, Alica Goldman, Aida Telegrafi, Alicia Boughton, Candace Gamble, Sebastien Moutton, Angélique Quartier, Nolwenn Jean, Paul Van Ness, Sarah Grotto, Sophie Nambot, Ganka Douglas, Yue Cindy Si, Jamel Chelly, Zohra Shad, Elisabeth Kaplan, Richard Dineen, Christelle Golzio, Nicolas Charlet-Berguerand, Jean-Louis Mandel, Amélie Piton

Faculty, Staff and Students Publications

The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific alternative splicing (AS), previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI. The six variants lead to the same reading frame, adding a common proline rich C-terminal part instead of the last KH RNA binding domain. We detected 41 genes differentially spliced after NOVA2 …

The Pharmacogenetics Of Opioid Pain Management, Maryanne Ventura, Lauren Desko, Kimberly Gathers, Ashley Overy, David Kisor

Pharmacy and Wellness Review

High rates of interpatient variability in drug metabolism and drug response for nearly all medications lead to the hypothesis that assessment of an individual patient's genotype with respect to their ability metabolize certain drugs can be a useful tool in predicting a patient's responsiveness to certain medications. Evaluating patients using pharmacogenomics as a basis for assessment could allow pharmacists to decide which treatment options would be most efficacious in a given patient and, thereby, have significant impact in the clinical setting. This holds true especially in the case of prodrugs, which require in vivo activation to an active or more …