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1. Advancing genomics to improve health equity.

Author

Madden, Ebony, Hindorff, Lucia, Bonham, Vence, Akintobi, Tabia, Burchard, Esteban, Baker, Kellan, Begay, Rene, Carpten, John, Cox, Nancy, Di Francesco, Valentina, Dillard, Denise, Fletcher, Faith, Fullerton, Stephanie, Garrison, Nanibaa, Hammack-Aviran, Catherine, Hiratsuka, Vanessa, Hildreth, James, Horowitz, Carol, Hughes Halbert, Chanita, Inouye, Michael, Jackson, Amber, Landry, Latrice, Kittles, Rick, Leek, Jeff, Limdi, Nita, Lockhart, Nicole, Ofili, Elizabeth, Pérez-Stable, Eliseo, Sabatello, Maya, Saulsberry, Loren, Schools, Lorjetta, Troyer, Jennifer, Wilfond, Benjamin, Wojcik, Genevieve, Cho, Judy, Lee, Sandra, and Green, Eric

Subjects
Humans, Genomics, Health Equity, United States, Genome, Human, National Human Genome Research Institute (U.S.)
Abstract

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine.

Published
2024

4. Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network

Author

Lewis, Anna C.F., Chisholm, Rex L., Connolly, John J., Esplin, Edward D., Glessner, Joe, Gordon, Adam, Green, Robert C., Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Jarvik, Gail P., Karlson, Elizabeth, Kenny, Eimear E., Kottyan, Leah, Lennon, Niall, Linder, Jodell E., Luo, Yuan, Martin, Lisa J., Perez, Emma, Puckelwartz, Megan J., Rasmussen-Torvik, Laura J., Sabatello, Maya, Sharp, Richard R., Smoller, Jordan W., Sterling, Rene, Terek, Shannon, Wei, Wei-Qi, and Fullerton, Stephanie M.

Published
2024
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7. Precision Medicine in Nephrology: An Integrative Framework of Multidimensional Data in the Kidney Precision Medicine Project

Author

Lake, Blue, Zhang, Kun, Lecker, Stewart, Morales, Alexander, Bogen, Steve, Amodu, Afolarin A., Beck, Laurence, Henderson, Joel, Ilori, Titlayo, Maikhor, Shana, Onul, Ingrid, Schmidt, Insa, Verma, Ashish, Waikar, Sushrut, Yadati, Pranav, Yu, Guanghao, Colona, Mia R., McMahon, Gearoid, Hacohen, Nir, Greka, Anna, Hoover, Paul J., Marshall, Jamie L., Aulisio, Mark, Bush, William, Chen, Yijiang, Crawford, Dana, Madabhushi, Anant, Viswanathan, Vidya S., Bush, Lakeshia, Cooperman, Leslie, Gadegbeku, Crystal, Herlitz, Leal, Jolly, Stacey, Nguyen, Jane, O’Malley, Charles, O’Toole, John, Palmer, Ellen, Poggio, Emilio, Spates-Harden, Kassandra, Sedor, John, Sendrey, Dianna, Taliercio, Jonathan, Appelbaum, Paul, Balderes, Olivia, Barasch, Jonathan, Berroue, Cecilia, Bomback, Andrew, Canetta, Pietro A., D’Agati, Vivette, Kiryluk, Krzysztof, Kudose, Satoru, Mehl, Karla, Sabatello, Maya, Shang, Ning, de Pinho Gonçalves, Joana, Lardenoije, Roy, Migas, Lukasz, Van de Plas, Raf, Rennke, Helmut, Azeloglu, Evren, Campbell, Kirk, Coca, Steven, He, Cijang, He, John, Iyengar, Srinivas Ravi, Lefferts, Seanee, Nadkarni, Girish, Patel, Marissa, Tokita, Joji, Ward, Stephen, Xiong, Yuguang, Verdoes, Abraham, Sabo, Angela, Barwinska, Daria, Gisch, Debora Lidia, Williams, James, Kelly, Katherine, Dunn, Kenneth, Asghari, Mahla, Eadon, Michael, Ferkowicz, Michael, Dagher, Pierre, Ferreira, Ricardo Melo, Winfree, Seth, Bledsoe, Sharon, Wofford, Stephanie, El-Achkar, Tarek, Sutton, Timothy, Bowen, William, Cheng, Ying-Hua, Slade, Austen, Record, Elizabeth, Cheng, Yinghua, Borner, Katy, Herr, Bruce, Jain, Yashvardhan, Quardokus, Ellen, Atta, Mohamed, Bernard, Lauren, Menez, Steven, Parikh, Chirag, Corona Villalobos, Celia Pamela, Wang, Ashley, Wen, Yumeng, Xu, Alan, Chen, Sarah, Donohoe, Isabel, Johansen, Camille, Rosas, Sylvia, Sun, Jennifer, Ardayfio, Joseph, Bebiak, Jack, Campbell, Taneisha, Fox, Monica, Knight, Richard, Koewler, Robert, Pinkeney, Roy, Saul, John, Shpigel, Anna, Prasad, Pottumarthi, Madhavan, Sethu M., Parikh, Samir, Rovin, Brad, Shapiro, John P., Anderton, Christopher, Lukowski, Jessica, Pasa-Tolic, Ljiljana, Velickovic, Dusan, Oliver, George, Mao, Weiguang, Sealfon, Rachel, Troyanskaya, Olga, Pollack, Ari, Goltsev, Yury, Ginley, Brandon, Anjani, Kavya, Laszik, Zoltan G., Mukatash, Tariq, Nolan, Garry, Beyda, David, Bracamonte, Erika, Brosius, Frank, Campos, Baltazar, Marquez, Nicole, Mendoza, Katherine, Scott, Raymond, Thajudeen, Bijin, Tsosie, Rebecca, Woodhead, Gregory, Saunders, Milda, Alloway, Rita R., Lee, Paul J., Rike, Adele, Shi, Tiffany, Woodle, E. Steve, Bjornstad, Petter, Hsieh, Elena, Kendrick, Jessica, Pyle, Laura, Thurman, Joshua, Vinovskis, Carissa, Wrobel, Julia, Lucarelli, Nicholas, Sarder, Pinaki, Bui, James, Carmona-Powell; Ron Gaba, Eunice, Kelly, Tanika, Lash, James, Meza, Natalie, Redmond, Devona, Renteria, Amada, Ricardo, Ana, Setty, Suman, Srivastava, Anand, Alakwaa, Fadhl, Ascani, Heather, Balis, Ul, Bitzer, Markus, Blanc, Victoria, Bonevich, Nikki, Conser, Ninive, Demeke, Dawit, Dull, Rachel, Eddy, Sean, Frey, Renee, Hartman, John, He, Yongqun Oliver, Hodgin, Jeffrey, Kretzler, Matthias, Lienczewski, Chrysta, Luo, Jinghui, Mariani, Laura, McCown, Phillip, Menon, Rajasree, Nair, Viji, Otto, Edgar, Reamy, Rebecca, Rose, Michael, Schaub, Jennifer, Steck, Becky, Wright, Zachary, Coleman, Alyson, Henderson-Brown; Jerica Berge, Dorisann, Caramori, Maria Luiza, Adeyi, Oyedele, Nachman, Patrick, Safadi, Sami, Flanagan, Siobhan, Ma, Sisi, Klett, Susan, Wolf, Susan, Harindhanavudhi, Tasma, Rao, Via, Bream, Peter, Froment, Anne, Kelley, Sara, Mottl, Amy, Chaudhury; Evan Zeitler, Prabir Roy, Bender, Filitsa, Elder, Michele, Gilliam, Matthew, Hall, Daniel E., Kellum, John A., Murugan, Raghavan, Palevsky, Paul, Rosengart, Matthew, Tan, Roderick, Tublin, Mitchell, Winters, James, Bansal, Shweta, Montellano, Richard, Pamreddy, Annapurna, Sharma, Kumar, Venkatachalam, Manjeri, Ye, Hongping, Zhang, Guanshi, Basit, Mujeeb, Cai, Qi, Hendricks, Allen, Hedayati, Susan, Kermani, Asra, Lee, Simon C., Ma, Shihong, Miller, Richard Tyler, Moe, Orson W., Park, Harold, Patel, Jiten, Pillai, Anil, Sambandam, Kamalanathan, Torrealba, Jose, Toto, Robert D., Vazquez, Miguel, Wang, Nancy, Wen, Natasha, Zhang, Dianbo, Alpers, Charles, Berglund, Ashley, Berry, Brooke, Blank, Kristina, Brown, Keith, Carson, Jonas, Daniel, Stephen, de Boer, Ian H., Dighe, Ashveena L., Dowd, Frederick, Grewenow, Stephanie M., Himmelfarb, Jonathan, Hoofnagle, Andrew, Jefferson, Nichole, Larson, Brandon, Limonte, Christine, McClelland, Robyn, Mooney, Sean, Nam, Yunbi, Park, Christopher, Phuong, Jimmy, Rezaei, Kasra, Roberts, Glenda, Sarkisova, Natalya, Shankland, Stuart, Snyder, Jaime, Stutzke, Christy, Tuttle, Katherine, Wangperawong, Artit, Wilcox, Adam, Williams, Kayleen, Young, Bessie, Allen, Jamie, Caprioli, Richard M., de Caestecker, Mark, Djambazova, Katerina, Dufresne, Martin, Farrow, Melissa, Fogo, Agnes, Sharman, Kavya, Spraggins, Jeffrey, Basta, Jeannine, Conlon, Kristine, Diettman, Sabine M., Gaut, Joseph, Kaushal, Madhurima, Jain, Sanjay, Knoten, Amanda, Minor, Brittany, Nwanne, Gerald, Vijayan, Anitha, Zhang, Bo, Arora, Tanima, Cantley, Lloyd, Victoria Castro, Angela M., Kakade, Vijayakumar, Moeckel, Gilbert, Moledina, Dennis, Shaw, Melissa, Wilson, Francis P., El-Achkar, Tarek M., and Eadon, Michael T.

Published
2024
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11. Molecular Signatures of Glomerular Neovascularization in a Patient with Diabetic Kidney Disease

Author

Ferkowicz, Michael J., Verma, Ashish, Barwinska, Daria, Melo Ferreira, Ricardo, Henderson, Joel M., Kirkpatrick, Mary, Silva, Paolo S., Steenkamp, Devin W., Phillips, Carrie L., Waikar, Sushrut S., Sutton, Timothy A., Lake, Blue, Zhang, Kun, Lecker, Stewart, Morales, Alexander, Stillman, Isaac, Bogen, Steve, Amodu, Afolarin A., Beck, Laurence, Henderson, Joel, Ilori, Titlayo, Maikhor, Shana, Onul, Ingrid, Schmidt, Insa, Verma, Ashish, Waikar, Sushrut, Yadati, Pranav, Yu, Guanghao, Colona, Mia R., McMahon, Gearoid, Weins, Astrid, Hacohen, Nir, Greka, Anna, Hoover, Paul J., Marshall, Jamie L., Aulisio, Mark, Bush, William, Chen, Yijiang, Crawford, Dana, Madabhushi, Anant, Viswanathan, Vidya S., Bush, Lakeshia, Cooperman, Leslie, Gadegbeku, Crystal, Herlitz, Leal, Jolly, Stacey, Nguyen, Jane, O’Malley, Charles, O’Toole, John, Palmer, Ellen, Poggio, Emilio, Spates-Harden, Kassandra, Sedor, John, Sendrey, Dianna, Taliercio, Jonathan, Appelbaum, Paul, Balderes, Olivia, Barasch, Jonathan, Berroue, Cecilia, Bomback, Andrew, Canetta, Pietro A., D’Agati, Vivette, Kiryluk, Krzysztof, Kudose, Satoru, Mehl, Karla, Sabatello, Maya, Shang, Ning, Varela, German, de Pinho Gonçalves, Joana, Lardenoije, Roy, Migas, Lukasz, Van de Plas, Raf, Barisoni, Laura, Rennke, Helmut, Azeloglu, Evren, Campbell, Kirk, Coca, Steven, He, Cijang, He, John, Iyengar, Srinivas Ravi, Lefferts, Seanee, Nadkarni, Girish, Patel, Marissa, Tokita, Joji, Ward, Stephen, Xiong, Yuguang, Verdoes, Abraham, Sabo, Angela, Barwinska, Daria, Gisch, Debora Lidia, Williams, James, Kelly, Katherine, Dunn, Kenneth, Asghari, Mahla, Eadon, Michael, Ferkowicz, Michael, Dagher, Pierre, Ferreira, Ricardo Melo, Winfree, Seth, Bledsoe, Sharon, Wofford, Stephanie, El-Achkar, Tarek, Sutton, Timothy, Bowen, William, Cheng, Ying-Hua, Slade, Austen, Record, Elizabeth, Cheng, Yinghua, Borner, Katy, Herr, Bruce, Jain, Yashvardhan, Quardokus, Ellen, Atta, Mohamed, Bernard, Lauren, Menez, Steven, Parikh, Chirag, Corona Villalobos, Celia Pamela, Wang, Ashley, Wen, Yumeng, Xu, Alan, Chen, Sarah, Donohoe, Isabel, Johansen, Camille, Rosas, Sylvia, Sun, Jennifer, Ardayfio, Joseph, Bebiak, Jack, Brown, Keith, Campbell, Taneisha, Fox, Monica, Hayashi, Lynda, Jefferson, Nichole, Richard Knight, Jennifer Jones, Koewler, Robert, Pinkeney, Roy, Saul, John, Shpigel, Anna, Stutzke, Christy, Prasad, Pottumarthi, Madhavan, Sethu M., Parikh, Samir, Rovin, Brad, Shapiro, John P., Anderton, Christopher, Lukowski, Jessica, Pasa-Tolic, Ljiljana, Velickovic, Dusan, Oliver, George, Mao, Weiguang, Sealfon, Rachel, Troyanskaya, Olga, Wong, Aaron, Pollack, Ari, Goltsev, Yury, Ginley, Brandon, Lutnick, Brendon, Anjani, Kavya, Laszik, Zoltan G., Mukatash, Tariq, Nolan, Garry, Beyda, David, Bracamonte, Erika, Brosius, Frank, Campos, Baltazar, Marquez, Nicole, Mendoza, Katherine, Scott, Raymond, Thajudeen, Bijin, Tsosie, Rebecca, Woodhead, Gregory, Saunders, Milda, Alloway, Rita R., Lee, Paul J., Rike, Adele, Shi, Tiffany, Woodle, E. Steve, Bjornstad, Petter, Hsieh, Elena, Kendrick, Jessica, Pyle, Laura, Thurman, Joshua, Vinovskis, Carissa, Wrobel, Julia, Lucarelli, Nicholas, Sarder, Pinaki, Bui, James, Carmona-Powell, Eunice, Gaba, Ron, Kelly, Tanika, Lash, James, Meza, Natalie, Redmond, Devona, Renteria, Amada, Ricardo, Ana, Setty, Suman, Srivastava, Anand, Alakwaa, Fadhl, Ascani, Heather, Balis, Ul, Bitzer, Markus, Blanc, Victoria, Bonevich, Nikki, Conser, Ninive, Demeke, Dawit, Dull, Rachel, Eddy, Sean, Frey, Renee, Hartman, John, He, Yongqun Oliver, Hodgin, Jeffrey, Kretzler, Matthias, Lienczewski, Chrysta, Luo, Jinghui, Mariani, Laura, McCown, Phillip, Menon, Rajasree, Nair, Viji, Otto, Edgar, Reamy, Rebecca, Rose, Michael, Schaub, Jennifer, Steck, Becky, Wright, Zachary, Coleman, Alyson, Henderson-Brown, Dorisann, Berge, Jerica, Caramori, Maria Luiza, Adeyi, Oyedele, Nachman, Patrick, Safadi, Sami, Flanagan, Siobhan, Ma, Sisi, Klett, Susan, Wolf, Susan, Harindhanavudhi, Tasma, Rao, Via, Bream, Peter, Froment, Anne, Kelley, Sara, Mottl, Amy, Roy-Chaudhury, Prabir, Zeitler, Evan, Bender, Filitsa, Elder, Michele, Gilliam, Matthew, Hall, Daniel E., Kellum, John A., Murugan, Raghavan, Palevsky, Paul, Rosengart, Matthew, Tan, Roderick, Tublin, Mitchell, Winters, James, Bansal, Shweta, Montellano, Richard, Pamreddy, Annapurna, Sharma, Kumar, Venkatachalam, Manjeri, Ye, Hongping, Zhang, Guanshi, Basit, Mujeeb, Cai, Qi, Hendricks, Allen, Hedayati, Susan, and Asra

Published
2024
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12. Participant Experience with Protocol Research Kidney Biopsies in the Kidney Precision Medicine Project

Author

Victoria-Castro, Angela M., Corona-Villalobos, Celia P., Xu, Alan Y., Onul, Ingrid, Huynh, Courtney, Chen, Sarah W., Ugwuowo, Ugochukwu, Sarkisova, Natalya, Dighe, Ashveena L., Blank, Kristina N., Blanc, Victoria M., Rose, Michael P., Himmelfarb, Jonathan, de Boer, Ian H., Tuttle, Katherine R., Roberts, Glenda V., Alexandrov, Theodore, Alloway, Rita R., Alpers, Charles E., Amodu, Afolarin A., Anderton, Christopher R., Anjani, Kavya, Appelbaum, Paul, Ardayfio, Joseph, Arora, Tanima, Ascani, Heather, El-Achkar, Tarek M., Aulisio, Mark, Azeloglu, Evren U., Balderes, Olivia, Balis, Ulysses G.J., Bansal, Shweta, Barasch, Jonathan M., Bansal, Shweta, Barkell, Alex, Barwinska, Daria, Basit, Mujeeb, Basta, Jeanine, Bebiak, Jack, Beck, Laurence H., Bender, Filitsa, Berglund, Ashley, Bernard, Lauren, Berrouet, Cecilia, Berry, Brooke, Bjornstad, Petter M., Blanc, Victoria M., Blank, Kristina N., Bledsoe, Sharon, Boada, Patrick, Bogen, Steve, Bomback, Andrew S., Bonevich, Nikole, Borner, Katy, Brown, Keith, Bueckle, Andreas, Burg, Ashley R., Burgess, Adam, Bush, Lakeshia, Bush, William S., Campbell, Catherine E., Campbell, Taneisha, Canetta, Pietro A., Cantley, Lloyd G., Caprioli, Richard M., Carson, Jonas, Chen, Sarah, Chen, Yijiang M., Cheng, Yinghua, Cimino, Jim, Colona, Mia R., Conser, Ninive C., Cooperman, Leslie, Crawford, Dana C., DʼAgati, Vivette D., Dagher, Pierre C., Daniel, Stephen, Daratha, Kenn, de Boer, Ian H., Diettman, Sabine M., Dighe, Ashveena L., Donohoe, Isabel, Dowd, Frederick, Dunn, Kenneth W., Eadon, Michael T., Eddy, Sean, Elder, Michele M., Ferkowicz, Michael J., Frey, Renee, Gadegbeku, Crystal A., Gaut, Joseph P., Gilliam, Matthew, Ginley, Brandon, Gisch, Debora, Goltsev, Yury, Gonzalez-Vicente, Agustin, Greka, Anna, Grewenow, Stephanie M., Hacohen, Nir, Hall, Daniel E., Hansen, Jens, Hayashi, Lynda, He, Cijang, He, Yougqun, Hedayati, S. Susan, Henderson, Joel M., Hendricks, Allen H., Herlitz, Leal, Herr, Bruce W., Himmelfarb, Jonathan, Hodgin, Jeffrey B., Hoofnagle, Andrew N., Hoover, Paul J., Ilori, Titlayo, Iyengar, Ravi, Jain, Sanjay, Jain, Yashvardhan, Janowczyk, Andrew, Jefferson, Nichole, Johansen, Camille, Jolly, Stacey, Kakade, Vijaykumar R., Kellum, John A., Kelly, Katherine J., Kermani, Asra, Kiryluk, Krzysztof, Knight, Richard, Koewler, Robert, Kretzler, Matthias, Kudose, Satoru, Lake, Blue B., Larson, Brandon, Laszik, Zoltan G., Lecker, Stewart H., Lee, Paul J., Lee, Simon C., Lienczewski, Chrysta, Limonte, Christine, Lu, Christopher Y., Lucarelli, Nicholas, Lukowski, Jessica, Luo, Jinghui, Lutnick, Brendon, Ma, Shihong, Madabhushi, Anant, Madhavan, Sethu M., Maikhor, Shana, Mariani, Laura H., Marshall, Jamie L., McClelland, Robyn L., McMahon, Gearoid M., Mehl, Karla, Ferreira, Ricardo Melo, Menez, Steven, Menon, Rajasree, Miller, R. Tyler, Moe, Orson W., Moledina, Dennis, Montellano, Richard, Mooney, Sean D., Morales, Martha Catalina, Mukatash, Tariq, Murugan, Raghavan, Nam, Yunbi, Nguyen, Jane, Nolan, Garry, Oʼtoole, John, Oliver, George (Holt), Onul, Ingrid, Otto, Edgar, Palevsky, Paul M., Palmer, Ellen, Pamreddy, Annapurna, Parikh, Chirag R., Parikh, Samir, Park, Christopher, Park, Harold, Pasa-Tolic, Ljiljana, Patel, Jiten, Patterson, Nathan, Phuong, Jim, Pillai, Anil, Pinkeney, Roy, Poggio, Emilio, Pollack, Ari, Prasad, Pottumarthi, Pyle, Laura, Quardokus, Ellen M., Randhawa, Parmjeet, Rauchman, Michael I., Record, Elizabeth, Rennke, Helmut, Rezaei, Kasra, Rike, Adele, Rivera, Marcelino, Roberts, Glenda V., Rosas, Sylvia E., Rosenberg, Avi, Rosengart, Matthew, Rovin, Brad, Roy, Neil, Sabatello, Maya, Sambandam, Kamalanathan, Sarder, Pinaki, Sarkisova, Natalya, Sarwal, Minnie, Saul, John, Schaub, Jennifer, Schmidt, Insa, Sealfon, Rachel, Sedor, John, Sendrey, Dianna, Shang, Ning, Shankland, Stuart, Shapiro, John P., Sharma, Kumar, Sharman, Kavya, Shaw, Melissa M., Shi, Tiffany, Shpigel, Anna, Sigdel, Tara, Slade, Austen, Snyder, Jamie, Spates-Harden, Kassandra, Spraggins, Jeffrey M., Srivastava, Anand, Steck, Becky, Stillman, Isaac, Stutzke, Christy, Su, Jing, Sun, Jennifer, Sutton, Timothy A., Taliercio, Jonathan, Tan, Roderick, Torrealba, Jose, Toto, Robert D., Troyanskaya, Olga, Tublin, Mitchell, Tuttle, Katherine R., Ugwuowo, Ugochukwu, Valerius, M. Todd, Van de Plas, Raf, Varela, German, Vazquez, Miguel, Velickovic, Dusan, Venkatachalam, Manjeri, Verma, Ashish, Victoria-Castro, Angela M., Vijayan, Anitha, Corona-Villalobos, Celia P., Vinovskis, Carissa, Viswanathan, Vidya S., Vita, Tina, Waikar, Sushrut, Wang, Ashley, Wang, Ruikang, Wang, Nancy, Weins, Astrid, Wen, Natasha, Wen, Yumeng, Wilcox, Adam, Williams, James C., Jr., Kayleen Williams, Williams, Mark, Wilson, Francis P., Winfree, Seth, Winters, James, Wofford, Stephanie, Wong, Aaron, Woodle, E. Steve, Xiong, Yuguang, Xu, Alan, Yadati, Pranav, Ye, Hongping, Yu, Guanghao, Zhang, Dianbo, Zhang, Guanshi, and Zhang, Kun

Published
2024
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14. Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores

Author

Connolly, John J., Berner, Eta S., Smith, Maureen, Levy, Samuel, Terek, Shannon, Harr, Margaret, Karavite, Dean, Suckiel, Sabrina, Holm, Ingrid A., Dufendach, Kevin, Nelson, Catrina, Khan, Atlas, Chisholm, Rex L., Allworth, Aimee, Wei, Wei-Qi, Bland, Harris T., Clayton, Ellen Wright, Soper, Emily R., Linder, Jodell E., Limdi, Nita A., Miller, Alexandra, Nigbur, Scott, Bangash, Hana, Hamed, Marwan, Sherafati, Alborz, Lewis, Anna C.F., Perez, Emma, Orlando, Lori A., Rakhra-Burris, Tejinder K., Al-Dulaimi, Mustafa, Cifric, Selma, Scherr, Courtney Lynam, Wynn, Julia, Hakonarson, Hakon, and Sabatello, Maya

Published
2023
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17. Returning integrated genomic risk and clinical recommendations: The eMERGE study

Author

Gordon, Adam, Sobowale, Agboade, Allworth, Aimee, Patel, Akshar, DiVietro, Alanna, Strong, Alanna, Sherafati, Alborz, Sherfati, Alborz, Bick, Alex, Miller, Alexandra, Chandel, Alka, Rosenthal, Alyssa, Khera, Amit, Kontorovich, Amy, Beck, Andrew, Beck, Andy, Espinoza, Angelica, Lewis, Anna, Prince, Anya, Khan, Atlas, Iverson, Ayuko, Khales, Bahram Namjou, Benoit, Barbara, Hernan, Becca, Kallman, Ben, Kerman, Ben, Shoemaker, Ben, Satterfield, Benjamin, Devine, Beth, Etheridge, Bethany, Goff, Blake, Freimuth, Bob, Grundmeier, Bob, Collier, Brenae, Mutai, Brenda, Harnett, Brett, Chang, Brian, Piening, Brian, Davis, Brittney, Korf, Bruce, Patterson, Candace, Demetriou, Carmen, Ta, Casey, Hammack, Catherine, Nelson, Catrina, Gascoigne, Caytie, Dorn, Chad, Moretz, Chad, Kachulis, Chris, Hoell, Christie, Cowles, Christine, Lange, Christoph, Weng, Chunhua, Prows, Cindy, Brokamp, Cole, Liu, Cong, Scherr, Courtney, Gonzalez, Crystal, Ramirez, Cynthia, Shimbo, Daichi, Roden, Dan, Schaid, Daniel, Kaufman, Dave, Crosslin, David, Kochan, David, Veenstra, David, Singh, Davinder, Karavite, Dean, Abrams, Debbie, Absher, Devin, Edwards, Digna Velez, Haverfield, Eden, Morales, Eduardo, Esplin, Edward, Malolepsza, Edyta, Alipour, Ehsan, Kenny, Eimear, Rosenthal, Elisabeth, Duvall, Eliza, McNally, Elizabeth, Bhoj, Elizabeth, Cohn, Elizabeth, Hibler, Elizabeth, Karlson, Elizabeth, Clayton, Ellen, Chesnut, Emily, DeFranco, Emily, Gallagher, Emily, Soper, Emily, Perez, Emma, Cash, Erin, Berner, Eta, Wang, Fei, Wehbe, Firas, Ricci, Francisco, Mentch, Frank, Shaibi, Gabriel, Jarvik, Gail, Hahn, George, Hripcsak, George, Wiesner, Georgia, Belbin, Gillian, Davogustto, Gio, Nadkarni, Girish, Qiu, Haijun, Hakonarson, Hakon, Bangash, Hana, Beasley, Hannah, Liu, Hao, Aungst, Heide, Tiwari, Hemant, Duckham, Hillary, Thomas, Hope, Kullo, Iftikhar, Holm, Ingrid, Allen, Isabelle, Ionita-Laza, Iuliana, Hellwege, Jacklyn, Petrzelka, Jacob, Odgis, Jacqueline, Narula, Jahnavi, Petrzelka, Jake, Patel, Jalpa, Cimino, James, Meigs, James, Snyder, James, Olson, Janet, Zahner, Janet, Pennington, Jeff, Pacheco, Jen, Pacheco, Jennifer Allen, Morse, Jennifer, Corsmo, Jeremy, Thayer, Jeritt, Cimino, Jim, Chen, Jingheng, Fournier, Jocelyn, Jackson, Jodell, Glessner, Joe, Pacyna, Joel, Smith, Johanna, Connolly, John, Lynch, John, Shelley, John, Mosley, Jonathan, Nestor, Jordan, Smoller, Jordan, Alsip, Jorge, Kannry, Joseph, Sutton, Joseph, Peterson, Josh, Smith, Joshua, Galasso, Julia, Smith, Julia, Wynn, Julia, Gundelach, Justin, Starren, Justin, Choi, Karmel, Mittendorf, Kate, Anderson, Katherine, Bonini, Katherine, Leppig, Kathleen, Muenzen, Kathleen, Larkin, Katie, Stuttgen, Kelsey, Wiley, Ken, Nguyen, Kenny, Dufendach, Kevin, Atkins, Kiley, Sawicki, Konrad, Norland, Kristjan, Kiryluk, Krzysztof, Beskow, Laura, Rasmussen-Torvik, Laura, Kottyan, Leah, Hsu, Li, Tian, Lifeng, Mahanta, Lisa, Martin, Lisa, Wang, Lisa, Gomez, Lizbeth, Thompson, Lorenzo, Orlando, Lori, Richter, Lucas, Rasmussen, Luke, Petukhova, Lynn, Seabolt, Lynn, O’Brien, Madison, Harden, Maegan, Fullerton, Malia, Harr, Margaret, Beasley, Mark, Guindo, Marta, Horike, Martha, Horike-Pyne, Martha, Abdalla, Marwah, Hamed, Marwan, Terry, Mary Beth, Maradik, Mary, Wyatt, Matt, Davis, Matthew, Lebo, Matthew, Smith, Maureen, Rosario, Maya del, Sabatello, Maya, Behr, Meckenzie, Roy-Puckelwartz, Meg, Habrat, Mel, Myers, Melanie, Yetisgen, Meliha, Iris, Merve, DaSilva, Michael, Preuss, Michael, McGowan, Michelle, Shi, Mingjian, Perera, Minoli, Thomas, Minta, Elkind, Mitch, Abbass, Mohammad, Saadatagah, Mohammad, Hess, Molly, Maradik, Molly, Vaitinadin, Nataraja “RJ”, Vaitinadin, Nataraja, Muthu, Naveen, Netherly, Neil, Lennon, Niall, Shang, Ning, Limdi, Nita, Forrest, Noah, Romero, Noheli, Robinson, Nora, Abul-Husn, Noura, Elsekaily, Omar, Dikilitas, Ozan, Kovatch, Patricia, Davis, Patrick, Appelbaum, Paul, Francaviglia, Paul, O’Reilly, Paul, Chandler, Paulette, Caraballo, Pedro, Tarczy-Hornoch, Peter, Shum, Pierre, Marathe, Priya, Murali, Priyanka, Feng, Qiping, Wells, Quinn, Atchley, Rachel, Narla, Radhika, Barton, Rene, Sterling, Rene, Chisholm, Rex, Green, Richard, Sharp, Richard, Peters, Riki, Kukafka, Rita, Rowley, Robb, Freimuth, Robert, Green, Robert, Winter, Robert, Mueller, Roger, Loos, Ruth, Irvin, Ryan, Suckiel, Sabrina, Hussain, Sajjad, Sharba, Samer, Aronson, Sandy, Jones, Sarah, Knerr, Sarah, Nigbur, Scott, Weiss, Scott, Mooney, Sean, Terek, Shannon, Aufox, Sharon, Nirenberg, Sharon, Murphy, Shawn, O’Byrne, Sheila, Wang (Sam) Choi, Shing, Aguilar, Sienna, Bland, S.T., Rodrigues, Stefanie, Ledbetter, Stephanie, Rutledge, Stephanie, Booth, Stuart James, Xian, Su, Trinidad, Susan Brown, Bakken, Suzanne, Schmidlen, Tara, Rakhra-Burris, Tejinder, Manolio, Teri, Mersha, Tesfaye, Walunas, Theresa, Chandereng, Thevaa, May, Thomas, Ge, Tian, Edwards, Todd, Kaszemacher, Tom, Hernandez, Valentina, Willis, Valerie, Desai, Vemi, Desai, Vimi, Lorenzi, Virginia, Gainer, Vivian, Wei, Wei-Qi, Chung, Wendy, Su, Wu-Chen, Chang, Xiao, Zhao, Yiqing, Luo, Yuan, Shen, Yufeng, Linder, Jodell E., Bland, Sarah T., Caraballo, Pedro J., Chisholm, Rex L., Clayton, Ellen Wright, Crosslin, David R., Esplin, Edward D., Forman, Sophie, Freimuth, Robert R., Gordon, Adam S., Harden, Maegan V., Holm, Ingrid A., Jarvik, Gail P., Karlson, Elizabeth W., Labrecque, Sofia, Lennon, Niall J., Limdi, Nita A., Mittendorf, Kathleen F., Murphy, Shawn N., Prows, Cynthia A., Rasmussen, Luke V., Sawicki, Konrad Teodor, Velez Edwards, Digna R., Abul-Husn, Noura S., Below, Jennifer E., Berner, Eta S., Booth, James, Chung, Wendy K., Cimino, James J., Fullerton, Stephanie M., Guiducci, Candace, Habrat, Melissa L., Hain, Heather, Hoell, Christin, Irvin, Marguerite R., Kachulis, Christopher, Kenny, Eimear E., Kullo, Iftikhar J., Manolio, Teri A., McNally, Elizabeth M., Mooney, Sean D., Namjou, Bahram, Perez, Emma F., Puckelwartz, Megan J., Roden, Dan M., Rosenthal, Elisabeth A., Saadatagah, Seyedmohammad, Schaid, Dan J., Schultz, Baergen, Shaibi, Gabriel Q., Sharp, Richard R., Shirts, Brian, Smith, Maureen E., Smoller, Jordan W., Suckiel, Sabrina A., Tiwari, Hemant K., Trinidad, Susan B., Wells, Quinn S., Wiesner, Georgia L., and Peterson, Josh F.

Published
2023
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19. Whether Whole Eye Transplant is a Benefit or Harm Depends on More Than the Observer.

Author

Baugh, Mika and Sabatello, Maya

Subjects
*PATIENT selection, *FACIAL transplantation, *RISK assessment, *VISION disorders, *TRANSPLANTATION of organs, tissues, etc., *DIFFUSION of innovations, *PATIENTS, *GROUP identity, *HOMOGRAFTS, *BIOETHICS, *ATTITUDE (Psychology), *SURGICAL complications, *QUALITY of life, *SOCIAL support, *SOCIAL stigma, *DISEASE risk factors, EYE transplantation
Abstract

The article presents the discussion on contemplating the first whole eye transplant (WET) procedure in humans. Topics include implications of such a procedure on the physical, social, and psychological well-being of the patient, and focus on the need for transparency, information-sharing; and authors acknowledge the tension between the medical and social models of disability.

Published
2024
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21. The need for an intersectionality framework in precision medicine research

Author

Sabatello, Maya, primary, Diggs-Yang, Gregory, additional, Santiago, Alicia, additional, Easter, Carla, additional, Jacoby Morris, Kim, additional, Hollister, Brittany M., additional, Hahn, Michael, additional, Baker, Kellan, additional, McCormick, Alma, additional, Greene-Moton, Ella, additional, Daulton, Christina, additional, and Goto, Greta, additional

Published
2023
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22. Invisible: People with Disability and (In)equity in Precision Medicine Research.

Author

Sabatello, Maya and McDonald, Katherine E.

Subjects
*EVALUATION of medical care, *MEDICAL quality control, *HEALTH policy, *HEALTH services accessibility, *INDIVIDUALIZED medicine, *PUBLIC health, *MEDICAL care, *SELF-efficacy, *INTERSECTIONALITY, *GENOMICS, *QUALITY assurance, *GOVERNMENT policy, *PEOPLE with disabilities, *HEALTH equity, *MEDICAL research
Abstract

The article focuses on the challenges of equity in precision medicine research (PMR), specifically analyzing the Genomics England's 100KGP and the All of Us Research Program. It explores exclusionary factors both upstream and downstream, emphasizing the risk of exacerbating health disparities, and highlights the often-overlooked population of people with disabilities in PMR, addressing issues related to disability and intersectionality.

Published
2024
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23. Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.

Author

Casillan, Aimiel, Florido, Michelle E, Galarza-Cornejo, Jamie, Bakken, Suzanne, Lynch, John A, Chung, Wendy K, Mittendorf, Kathleen F, Berner, Eta S, Connolly, John J, Weng, Chunhua, Holm, Ingrid A, Khan, Atlas, Kiryluk, Krzysztof, Limdi, Nita A, Petukhova, Lynn, Sabatello, Maya, and Wynn, Julia

Abstract

Objective Developing targeted, culturally competent educational materials is critical for participant understanding of engagement in a large genomic study that uses computational pipelines to produce genome-informed risk assessments. Materials and Methods Guided by the Smerecnik framework that theorizes understanding of multifactorial genetic disease through 3 knowledge types, we developed English and Spanish infographics for individuals enrolled in the Electronic Medical Records and Genomics Network. Infographics were developed to explain concepts in lay language and visualizations. We conducted iterative sessions using a modified "think-aloud" process with 10 participants (6 English, 4 Spanish-speaking) to explore comprehension of and attitudes towards the infographics. Results We found that all but one participant had "awareness knowledge" of genetic disease risk factors upon viewing the infographics. Many participants had difficulty with "how-to" knowledge of applying genetic risk factors to specific monogenic and polygenic risks. Participant attitudes towards the iteratively-refined infographics indicated that design saturation was reached. Discussion There were several elements that contributed to the participants' comprehension (or misunderstanding) of the infographics. Visualization and iconography techniques best resonated with those who could draw on prior experiences or knowledge and were absent in those without. Limited graphicacy interfered with the understanding of absolute and relative risks when presented in graph format. Notably, narrative and storytelling theory that informed the creation of a vignette infographic was most accessible to all participants. Conclusion Engagement with the intended audience who can identify strengths and points for improvement of the intervention is necessary to the development of effective infographics. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Returning integrated genomic risk and clinical recommendations: The eMERGE study

Author

Linder, Jodell E., primary, Allworth, Aimee, additional, Bland, Sarah T., additional, Caraballo, Pedro J., additional, Chisholm, Rex L., additional, Clayton, Ellen Wright, additional, Crosslin, David R., additional, Dikilitas, Ozan, additional, DiVietro, Alanna, additional, Esplin, Edward D., additional, Forman, Sophie, additional, Freimuth, Robert R., additional, Gordon, Adam S., additional, Green, Richard, additional, Harden, Maegan V., additional, Holm, Ingrid A., additional, Jarvik, Gail P., additional, Karlson, Elizabeth W., additional, Labrecque, Sofia, additional, Lennon, Niall J., additional, Limdi, Nita A., additional, Mittendorf, Kathleen F., additional, Murphy, Shawn N., additional, Orlando, Lori, additional, Prows, Cynthia A., additional, Rasmussen, Luke V., additional, Rasmussen-Torvik, Laura, additional, Rowley, Robb, additional, Sawicki, Konrad Teodor, additional, Schmidlen, Tara, additional, Terek, Shannon, additional, Veenstra, David, additional, Velez Edwards, Digna R., additional, Absher, Devin, additional, Abul-Husn, Noura S., additional, Alsip, Jorge, additional, Bangash, Hana, additional, Beasley, Mark, additional, Below, Jennifer E., additional, Berner, Eta S., additional, Booth, James, additional, Chung, Wendy K., additional, Cimino, James J., additional, Connolly, John, additional, Davis, Patrick, additional, Devine, Beth, additional, Fullerton, Stephanie M., additional, Guiducci, Candace, additional, Habrat, Melissa L., additional, Hain, Heather, additional, Hakonarson, Hakon, additional, Harr, Margaret, additional, Haverfield, Eden, additional, Hernandez, Valentina, additional, Hoell, Christin, additional, Horike-Pyne, Martha, additional, Hripcsak, George, additional, Irvin, Marguerite R., additional, Kachulis, Christopher, additional, Karavite, Dean, additional, Kenny, Eimear E., additional, Khan, Atlas, additional, Kiryluk, Krzysztof, additional, Korf, Bruce, additional, Kottyan, Leah, additional, Kullo, Iftikhar J., additional, Larkin, Katie, additional, Liu, Cong, additional, Malolepsza, Edyta, additional, Manolio, Teri A., additional, May, Thomas, additional, McNally, Elizabeth M., additional, Mentch, Frank, additional, Miller, Alexandra, additional, Mooney, Sean D., additional, Murali, Priyanka, additional, Mutai, Brenda, additional, Muthu, Naveen, additional, Namjou, Bahram, additional, Perez, Emma F., additional, Puckelwartz, Megan J., additional, Rakhra-Burris, Tejinder, additional, Roden, Dan M., additional, Rosenthal, Elisabeth A., additional, Saadatagah, Seyedmohammad, additional, Sabatello, Maya, additional, Schaid, Dan J., additional, Schultz, Baergen, additional, Seabolt, Lynn, additional, Shaibi, Gabriel Q., additional, Sharp, Richard R., additional, Shirts, Brian, additional, Smith, Maureen E., additional, Smoller, Jordan W., additional, Sterling, Rene, additional, Suckiel, Sabrina A., additional, Thayer, Jeritt, additional, Tiwari, Hemant K., additional, Trinidad, Susan B., additional, Walunas, Theresa, additional, Wei, Wei-Qi, additional, Wells, Quinn S., additional, Weng, Chunhua, additional, Wiesner, Georgia L., additional, Wiley, Ken, additional, Peterson, Josh F., additional, Gordon, Adam, additional, Sobowale, Agboade, additional, Patel, Akshar, additional, Strong, Alanna, additional, Sherafati, Alborz, additional, Sherfati, Alborz, additional, Bick, Alex, additional, Chandel, Alka, additional, Rosenthal, Alyssa, additional, Khera, Amit, additional, Kontorovich, Amy, additional, Beck, Andrew, additional, Beck, Andy, additional, Espinoza, Angelica, additional, Lewis, Anna, additional, Prince, Anya, additional, Iverson, Ayuko, additional, Khales, Bahram Namjou, additional, Benoit, Barbara, additional, Hernan, Becca, additional, Kallman, Ben, additional, Kerman, Ben, additional, Shoemaker, Ben, additional, Satterfield, Benjamin, additional, Etheridge, Bethany, additional, Goff, Blake, additional, Freimuth, Bob, additional, Grundmeier, Bob, additional, Collier, Brenae, additional, Harnett, Brett, additional, Chang, Brian, additional, Piening, Brian, additional, Davis, Brittney, additional, Patterson, Candace, additional, Demetriou, Carmen, additional, Ta, Casey, additional, Hammack, Catherine, additional, Nelson, Catrina, additional, Gascoigne, Caytie, additional, Dorn, Chad, additional, Moretz, Chad, additional, Kachulis, Chris, additional, Hoell, Christie, additional, Cowles, Christine, additional, Lange, Christoph, additional, Prows, Cindy, additional, Brokamp, Cole, additional, Scherr, Courtney, additional, Gonzalez, Crystal, additional, Ramirez, Cynthia, additional, Shimbo, Daichi, additional, Roden, Dan, additional, Schaid, Daniel, additional, Kaufman, Dave, additional, Crosslin, David, additional, Kochan, David, additional, Singh, Davinder, additional, Abrams, Debbie, additional, Edwards, Digna Velez, additional, Morales, Eduardo, additional, Esplin, Edward, additional, Alipour, Ehsan, additional, Kenny, Eimear, additional, Rosenthal, Elisabeth, additional, Duvall, Eliza, additional, McNally, Elizabeth, additional, Bhoj, Elizabeth, additional, Cohn, Elizabeth, additional, Hibler, Elizabeth, additional, Karlson, Elizabeth, additional, Clayton, Ellen, additional, Chesnut, Emily, additional, DeFranco, Emily, additional, Gallagher, Emily, additional, Soper, Emily, additional, Perez, Emma, additional, Cash, Erin, additional, Berner, Eta, additional, Wang, Fei, additional, Wehbe, Firas, additional, Ricci, Francisco, additional, Shaibi, Gabriel, additional, Jarvik, Gail, additional, Hahn, George, additional, Wiesner, Georgia, additional, Belbin, Gillian, additional, Davogustto, Gio, additional, Nadkarni, Girish, additional, Qiu, Haijun, additional, Beasley, Hannah, additional, Liu, Hao, additional, Aungst, Heide, additional, Tiwari, Hemant, additional, Duckham, Hillary, additional, Thomas, Hope, additional, Kullo, Iftikhar, additional, Holm, Ingrid, additional, Allen, Isabelle, additional, Ionita-Laza, Iuliana, additional, Hellwege, Jacklyn, additional, Petrzelka, Jacob, additional, Odgis, Jacqueline, additional, Narula, Jahnavi, additional, Petrzelka, Jake, additional, Patel, Jalpa, additional, Cimino, James, additional, Meigs, James, additional, Snyder, James, additional, Olson, Janet, additional, Zahner, Janet, additional, Pennington, Jeff, additional, Pacheco, Jen, additional, Pacheco, Jennifer Allen, additional, Morse, Jennifer, additional, Corsmo, Jeremy, additional, Cimino, Jim, additional, Chen, Jingheng, additional, Fournier, Jocelyn, additional, Jackson, Jodell, additional, Glessner, Joe, additional, Pacyna, Joel, additional, Smith, Johanna, additional, Lynch, John, additional, Shelley, John, additional, Mosley, Jonathan, additional, Nestor, Jordan, additional, Smoller, Jordan, additional, Kannry, Joseph, additional, Sutton, Joseph, additional, Peterson, Josh, additional, Smith, Joshua, additional, Galasso, Julia, additional, Smith, Julia, additional, Wynn, Julia, additional, Gundelach, Justin, additional, Starren, Justin, additional, Choi, Karmel, additional, Mittendorf, Kate, additional, Anderson, Katherine, additional, Bonini, Katherine, additional, Leppig, Kathleen, additional, Muenzen, Kathleen, additional, Stuttgen, Kelsey, additional, Nguyen, Kenny, additional, Dufendach, Kevin, additional, Atkins, Kiley, additional, Sawicki, Konrad, additional, Norland, Kristjan, additional, Beskow, Laura, additional, Hsu, Li, additional, Tian, Lifeng, additional, Mahanta, Lisa, additional, Martin, Lisa, additional, Wang, Lisa, additional, Gomez, Lizbeth, additional, Thompson, Lorenzo, additional, Richter, Lucas, additional, Rasmussen, Luke, additional, Petukhova, Lynn, additional, O’Brien, Madison, additional, Harden, Maegan, additional, Fullerton, Malia, additional, Guindo, Marta, additional, Horike, Martha, additional, Abdalla, Marwah, additional, Hamed, Marwan, additional, Terry, Mary Beth, additional, Maradik, Mary, additional, Wyatt, Matt, additional, Davis, Matthew, additional, Lebo, Matthew, additional, Smith, Maureen, additional, Rosario, Maya del, additional, Behr, Meckenzie, additional, Roy-Puckelwartz, Meg, additional, Habrat, Mel, additional, Myers, Melanie, additional, Yetisgen, Meliha, additional, Iris, Merve, additional, DaSilva, Michael, additional, Preuss, Michael, additional, McGowan, Michelle, additional, Shi, Mingjian, additional, Perera, Minoli, additional, Thomas, Minta, additional, Elkind, Mitch, additional, Abbass, Mohammad, additional, Saadatagah, Mohammad, additional, Hess, Molly, additional, Maradik, Molly, additional, Vaitinadin, Nataraja “RJ”, additional, Vaitinadin, Nataraja, additional, Netherly, Neil, additional, Lennon, Niall, additional, Shang, Ning, additional, Limdi, Nita, additional, Forrest, Noah, additional, Romero, Noheli, additional, Robinson, Nora, additional, Abul-Husn, Noura, additional, Elsekaily, Omar, additional, Kovatch, Patricia, additional, Appelbaum, Paul, additional, Francaviglia, Paul, additional, O’Reilly, Paul, additional, Chandler, Paulette, additional, Caraballo, Pedro, additional, Tarczy-Hornoch, Peter, additional, Shum, Pierre, additional, Marathe, Priya, additional, Feng, Qiping, additional, Wells, Quinn, additional, Atchley, Rachel, additional, Narla, Radhika, additional, Barton, Rene, additional, Chisholm, Rex, additional, Sharp, Richard, additional, Peters, Riki, additional, Kukafka, Rita, additional, Freimuth, Robert, additional, Green, Robert, additional, Winter, Robert, additional, Mueller, Roger, additional, Loos, Ruth, additional, Irvin, Ryan, additional, Suckiel, Sabrina, additional, Hussain, Sajjad, additional, Sharba, Samer, additional, Aronson, Sandy, additional, Jones, Sarah, additional, Knerr, Sarah, additional, Nigbur, Scott, additional, Weiss, Scott, additional, Mooney, Sean, additional, Aufox, Sharon, additional, Nirenberg, Sharon, additional, Murphy, Shawn, additional, O’Byrne, Sheila, additional, Wang (Sam) Choi, Shing, additional, Aguilar, Sienna, additional, Bland, S.T., additional, Rodrigues, Stefanie, additional, Ledbetter, Stephanie, additional, Rutledge, Stephanie, additional, Booth, Stuart James, additional, Xian, Su, additional, Trinidad, Susan Brown, additional, Bakken, Suzanne, additional, Manolio, Teri, additional, Mersha, Tesfaye, additional, Chandereng, Thevaa, additional, Ge, Tian, additional, Edwards, Todd, additional, Kaszemacher, Tom, additional, Willis, Valerie, additional, Desai, Vemi, additional, Desai, Vimi, additional, Lorenzi, Virginia, additional, Gainer, Vivian, additional, Chung, Wendy, additional, Su, Wu-Chen, additional, Chang, Xiao, additional, Zhao, Yiqing, additional, Luo, Yuan, additional, and Shen, Yufeng, additional

Published
2023
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32. Moving to Equity in the All of Us Research Program.

Author

Ferryman, Kadija, Goldenberg, Aaron J., and Sabatello, Maya

Subjects
HEALTH policy, DIVERSITY & inclusion policies, EQUALITY, INDIVIDUALIZED medicine, PUBLIC health, MEDICAL care, RIGHT to health, GENOMICS, SOCIAL integration
Abstract

The article focuses on the dual challenges of upstream and downstream exclusion of marginalized populations in precision medicine research, examining how exclusion in enrollment and benefits realization hinders the achievement of public health goals of equity. It mentions while acknowledging some efforts of the All of Us Program to mitigate upstream exclusion.

Published
2024
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35. Addressing underrepresentation in genomics research through community engagement

Author

Lemke, Amy A., primary, Esplin, Edward D., additional, Goldenberg, Aaron J., additional, Gonzaga-Jauregui, Claudia, additional, Hanchard, Neil A., additional, Harris-Wai, Julie, additional, Ideozu, Justin E., additional, Isasi, Rosario, additional, Landstrom, Andrew P., additional, Prince, Anya E.R., additional, Turbitt, Erin, additional, Sabatello, Maya, additional, Schrier Vergano, Samantha A., additional, Taylor, Matthew R.G., additional, Yu, Joon-Ho, additional, Brothers, Kyle B., additional, and Garrison, Nanibaa’ A., additional

Published
2022
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42. Nature vs. Nurture in Precision Education: Insights of Parents and the Public.

Author

Sabatello, Maya, Martin, Bree, Corbeil, Thomas, Lee, Seonjoo, Link, Bruce G., and Appelbaum, Paul S.

Subjects
*PARENTING education, *NATURE & nurture, *MIDDLE-aged persons, *BEHAVIOR genetics, *ECOLOGICAL genetics, *PUBLIC opinion
Abstract

The philosophical debate about the roles of nature versus nurture in human flourishing is not new. But the rise of precision education—a growing field of research that encourages the use of genetic data to inform educational trajectory and interventions to better meet student needs—has renewed historical and ethical concerns. A major worry is that "genetic hype" may skew public perceptions toward a deterministic perception of the child's educational trajectory, regardless of the child's capacities, and underestimation of environmental factors affecting educational outcomes. We tested this hypothesis with parents and adults from the general public in the US. A newly developed computerized implicit association test (IAT) to assess automatic associations between genetics or environments and student behaviors that are associated with educational achievement was administered to samples of parents of children below 21 years old (n = 450) and adults from the general public (n = 419). The samples were representative of the adult US population and adjusted to oversample Black/African American participants. An overall D score for participants' IATs (range: [-2, 2]) was calculated on the basis of the speed of participants' responses. The mean IAT score for both samples indicated stronger association between the quality of being a good student and environment rather than genetics (parents: mean=-0.146, t = -6.56, p < 0.001; general public: mean = -0.249, t = -9.45, p < 0.0001). Younger participants from the general public showed a stronger association between genetics and educational success than middle-aged participants (β = -0.301, p = 0.006). The views of parents and the general public on behavioral genetics and education are complex but call for investment in creating educational environments that are supportive of student success. Future research is needed to understand differences across age groups and to explore views of other stakeholders involved in determining children's educational trajectories about the roles of nature versus nurture in precision education. [ABSTRACT FROM AUTHOR]

Published
2022
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44. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Author

Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., Gharavi, Ali, Ars, Elisabet, Bekheirnia, Mir Reza, Bier, Louise, Bleyer, Anthony J., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine VAM., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., and Wong, Craig S.

Abstract

About 37 million people in the United States have chronic kidney disease, a disease that encompasses diseases of multiple causes. About 10% or more of kidney diseases in adults and about 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.

Published
2024
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46. The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Author

Rasouly, Hila Milo, Balderes, Olivia, Marasa, Maddalena, Fernandez, Hilda, Lipton, Marissa, Lin, Fangming, Gharavi, Ali G., and Sabatello, Maya

Abstract

The success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge.

Published
2023
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