Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice
Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholest...
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| Veröffentlicht in: | Journal of genetic counseling 2021-04, Vol.30 (2), p.439-447 |
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| container_title | Journal of genetic counseling |
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| creator | LeBlanc, Kimberly Acosta, Maria T Adams, David R. Bacino, Carlos A. Bademci, Guney Bale, Jim Bamshad, Michael Barbouth, Deborah Beggs, Alan H. Bejerano, Gill Bivona, Stephanie Blue, Elizabeth Bonnenmann, Carsten Brokamp, Elly Butte, Manish J. Byrd, William E. Chang, Ta Chen Peter Coakley, Terra R. Cobban, Laurel A. Cogan, Joy D. Coggins, Matthew Colley, Heather A. Cooper, Cynthia M. Cunningham, Michael Dasari, Surendra Dayal, Jyoti G. Deardorff, Matthew Dell'Angelica, Esteban C. Duncan, Laura Eckstein, David J. Emrick, Lisa T. Eng, Christine M. Esteves, Cecilia Estwick, Tyra Fieg, Elizabeth L. Findley, Laurie C. Fresard, Laure Goldstein, David B. Grajewski, Alana Gropman, Andrea L. Hahn, Sihoun Hamid, Rizwan High, Frances Hing, Anne Hisama, Fuki M. Holm, Ingrid A. Huang, Yong Jarvik, Jeffrey Kohane, Isaac S. Kohler, Jennefer N. Krakow, Deborah Kravets, Elijah Koziura, Mary Lam, Byron Lam, Christina Lanpher, Brendan C. Lau, C. Christopher Lee, Brendan H. Lewis, Richard A. Maduro, Valerie V. Mamounas, Laura A. Maravilla, Kenneth Marom, Ronit McCormack, Colleen E. McCray, Alexa T. Mefford, Heather Merritt, J. Lawrence Nicholas, Sarah K. Pak, Stephen Pallais, J. Carl Palmer, Christina G.S. Parker, Neil H. Raskind, Wendy Rao, Deepak A. Sacco, Ralph Scott, C. Ron Schaechter, Judy Schedl, Timothy Schoch, Kelly Sharma, Prashant Shin, Jimann Sillari, Catherine H. Sinsheimer, Janet S. Smith, Kevin S. Stoler, Joan M. Sullivan, Jennifer A. Sun, Angela Tamburro, Cecelia P. Telischi, Fred Toro, Camilo Vogel, Tiphanie P. Wahl, Colleen E. Perry, Katherine Wesseling Westerfield, Monte Wheeler, Matthew T. Whitlock, Jordan Woods, Jeremy D. Yamamoto, Shinya Yu, Guoyun Zhao, Chunli |
| description | Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication. |
| doi_str_mv | 10.1002/jgc4.1329 |
| format | Article |
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Christopher ; Lee, Brendan H. ; Lewis, Richard A. ; Maduro, Valerie V. ; Mamounas, Laura A. ; Maravilla, Kenneth ; Marom, Ronit ; McCormack, Colleen E. ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Nicholas, Sarah K. ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina G.S. ; Parker, Neil H. ; Raskind, Wendy ; Rao, Deepak A. ; Sacco, Ralph ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Tamburro, Cecelia P. ; Telischi, Fred ; Toro, Camilo ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yu, Guoyun ; Zhao, Chunli</creator><creatorcontrib>LeBlanc, Kimberly ; Acosta, Maria T ; Adams, David R. ; Bacino, Carlos A. ; Bademci, Guney ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Beggs, Alan H. ; Bejerano, Gill ; Bivona, Stephanie ; Blue, Elizabeth ; Bonnenmann, Carsten ; Brokamp, Elly ; Butte, Manish J. ; Byrd, William E. ; Chang, Ta Chen Peter ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Colley, Heather A. ; Cooper, Cynthia M. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dell'Angelica, Esteban C. ; Duncan, Laura ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fresard, Laure ; Goldstein, David B. ; Grajewski, Alana ; Gropman, Andrea L. ; Hahn, Sihoun ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Huang, Yong ; Jarvik, Jeffrey ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Kravets, Elijah ; Koziura, Mary ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Lau, C. Christopher ; Lee, Brendan H. ; Lewis, Richard A. ; Maduro, Valerie V. ; Mamounas, Laura A. ; Maravilla, Kenneth ; Marom, Ronit ; McCormack, Colleen E. ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Nicholas, Sarah K. ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina G.S. ; Parker, Neil H. ; Raskind, Wendy ; Rao, Deepak A. ; Sacco, Ralph ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Tamburro, Cecelia P. ; Telischi, Fred ; Toro, Camilo ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yu, Guoyun ; Zhao, Chunli ; Undiagnosed Diseases Network</creatorcontrib><description>Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.</description><identifier>ISSN: 1059-7700</identifier><identifier>ISSN: 1573-3599</identifier><identifier>EISSN: 1573-3599</identifier><identifier>DOI: 10.1002/jgc4.1329</identifier><identifier>PMID: 33108040</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Adults ; Communication ; Counseling ; Families & family life ; Family ; family communication ; Genetic Counseling ; genetic results ; Genetic screening ; Genetic Testing ; Guardians ; Health care ; Hearing loss ; Humans ; Hypercholesterolemia ; Insight ; Parents ; Parents & parenting ; Polls & surveys ; Relatives ; Undiagnosed ; undiagnosed disease ; Undiagnosed Diseases</subject><ispartof>Journal of genetic counseling, 2021-04, Vol.30 (2), p.439-447</ispartof><rights>2020 National Society of Genetic Counselors</rights><rights>2020 National Society of Genetic Counselors.</rights><rights>Copyright © 2021 National Society of Genetic Counselors</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4439-b317bde69bcbde27ad46c3d3f846f959d92462880c697bfeeb856c84550b0ac03</citedby><cites>FETCH-LOGICAL-c4439-b317bde69bcbde27ad46c3d3f846f959d92462880c697bfeeb856c84550b0ac03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fjgc4.1329$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fjgc4.1329$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,30976,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33108040$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LeBlanc, Kimberly</creatorcontrib><creatorcontrib>Acosta, Maria T</creatorcontrib><creatorcontrib>Adams, David R.</creatorcontrib><creatorcontrib>Bacino, Carlos A.</creatorcontrib><creatorcontrib>Bademci, Guney</creatorcontrib><creatorcontrib>Bale, Jim</creatorcontrib><creatorcontrib>Bamshad, Michael</creatorcontrib><creatorcontrib>Barbouth, Deborah</creatorcontrib><creatorcontrib>Beggs, Alan H.</creatorcontrib><creatorcontrib>Bejerano, Gill</creatorcontrib><creatorcontrib>Bivona, Stephanie</creatorcontrib><creatorcontrib>Blue, Elizabeth</creatorcontrib><creatorcontrib>Bonnenmann, Carsten</creatorcontrib><creatorcontrib>Brokamp, Elly</creatorcontrib><creatorcontrib>Butte, Manish J.</creatorcontrib><creatorcontrib>Byrd, William E.</creatorcontrib><creatorcontrib>Chang, Ta Chen Peter</creatorcontrib><creatorcontrib>Coakley, Terra R.</creatorcontrib><creatorcontrib>Cobban, Laurel A.</creatorcontrib><creatorcontrib>Cogan, Joy D.</creatorcontrib><creatorcontrib>Coggins, Matthew</creatorcontrib><creatorcontrib>Colley, Heather A.</creatorcontrib><creatorcontrib>Cooper, Cynthia M.</creatorcontrib><creatorcontrib>Cunningham, Michael</creatorcontrib><creatorcontrib>Dasari, Surendra</creatorcontrib><creatorcontrib>Dayal, Jyoti G.</creatorcontrib><creatorcontrib>Deardorff, Matthew</creatorcontrib><creatorcontrib>Dell'Angelica, Esteban C.</creatorcontrib><creatorcontrib>Duncan, Laura</creatorcontrib><creatorcontrib>Eckstein, David J.</creatorcontrib><creatorcontrib>Emrick, Lisa T.</creatorcontrib><creatorcontrib>Eng, Christine M.</creatorcontrib><creatorcontrib>Esteves, Cecilia</creatorcontrib><creatorcontrib>Estwick, Tyra</creatorcontrib><creatorcontrib>Fieg, Elizabeth L.</creatorcontrib><creatorcontrib>Findley, Laurie C.</creatorcontrib><creatorcontrib>Fresard, Laure</creatorcontrib><creatorcontrib>Goldstein, David B.</creatorcontrib><creatorcontrib>Grajewski, Alana</creatorcontrib><creatorcontrib>Gropman, Andrea L.</creatorcontrib><creatorcontrib>Hahn, Sihoun</creatorcontrib><creatorcontrib>Hamid, Rizwan</creatorcontrib><creatorcontrib>High, Frances</creatorcontrib><creatorcontrib>Hing, Anne</creatorcontrib><creatorcontrib>Hisama, Fuki M.</creatorcontrib><creatorcontrib>Holm, Ingrid A.</creatorcontrib><creatorcontrib>Huang, Yong</creatorcontrib><creatorcontrib>Jarvik, Jeffrey</creatorcontrib><creatorcontrib>Kohane, Isaac S.</creatorcontrib><creatorcontrib>Kohler, Jennefer N.</creatorcontrib><creatorcontrib>Krakow, Deborah</creatorcontrib><creatorcontrib>Kravets, Elijah</creatorcontrib><creatorcontrib>Koziura, Mary</creatorcontrib><creatorcontrib>Lam, Byron</creatorcontrib><creatorcontrib>Lam, Christina</creatorcontrib><creatorcontrib>Lanpher, Brendan C.</creatorcontrib><creatorcontrib>Lau, C. Christopher</creatorcontrib><creatorcontrib>Lee, Brendan H.</creatorcontrib><creatorcontrib>Lewis, Richard A.</creatorcontrib><creatorcontrib>Maduro, Valerie V.</creatorcontrib><creatorcontrib>Mamounas, Laura A.</creatorcontrib><creatorcontrib>Maravilla, Kenneth</creatorcontrib><creatorcontrib>Marom, Ronit</creatorcontrib><creatorcontrib>McCormack, Colleen E.</creatorcontrib><creatorcontrib>McCray, Alexa T.</creatorcontrib><creatorcontrib>Mefford, Heather</creatorcontrib><creatorcontrib>Merritt, J. Lawrence</creatorcontrib><creatorcontrib>Nicholas, Sarah K.</creatorcontrib><creatorcontrib>Pak, Stephen</creatorcontrib><creatorcontrib>Pallais, J. Carl</creatorcontrib><creatorcontrib>Palmer, Christina G.S.</creatorcontrib><creatorcontrib>Parker, Neil H.</creatorcontrib><creatorcontrib>Raskind, Wendy</creatorcontrib><creatorcontrib>Rao, Deepak A.</creatorcontrib><creatorcontrib>Sacco, Ralph</creatorcontrib><creatorcontrib>Scott, C. Ron</creatorcontrib><creatorcontrib>Schaechter, Judy</creatorcontrib><creatorcontrib>Schedl, Timothy</creatorcontrib><creatorcontrib>Schoch, Kelly</creatorcontrib><creatorcontrib>Sharma, Prashant</creatorcontrib><creatorcontrib>Shin, Jimann</creatorcontrib><creatorcontrib>Sillari, Catherine H.</creatorcontrib><creatorcontrib>Sinsheimer, Janet S.</creatorcontrib><creatorcontrib>Smith, Kevin S.</creatorcontrib><creatorcontrib>Stoler, Joan M.</creatorcontrib><creatorcontrib>Sullivan, Jennifer A.</creatorcontrib><creatorcontrib>Sun, Angela</creatorcontrib><creatorcontrib>Tamburro, Cecelia P.</creatorcontrib><creatorcontrib>Telischi, Fred</creatorcontrib><creatorcontrib>Toro, Camilo</creatorcontrib><creatorcontrib>Vogel, Tiphanie P.</creatorcontrib><creatorcontrib>Wahl, Colleen E.</creatorcontrib><creatorcontrib>Perry, Katherine Wesseling</creatorcontrib><creatorcontrib>Westerfield, Monte</creatorcontrib><creatorcontrib>Wheeler, Matthew T.</creatorcontrib><creatorcontrib>Whitlock, Jordan</creatorcontrib><creatorcontrib>Woods, Jeremy D.</creatorcontrib><creatorcontrib>Yamamoto, Shinya</creatorcontrib><creatorcontrib>Yu, Guoyun</creatorcontrib><creatorcontrib>Zhao, Chunli</creatorcontrib><creatorcontrib>Undiagnosed Diseases Network</creatorcontrib><title>Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice</title><title>Journal of genetic counseling</title><addtitle>J Genet Couns</addtitle><description>Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.</description><subject>Adult</subject><subject>Adults</subject><subject>Communication</subject><subject>Counseling</subject><subject>Families & family life</subject><subject>Family</subject><subject>family communication</subject><subject>Genetic Counseling</subject><subject>genetic results</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Guardians</subject><subject>Health care</subject><subject>Hearing loss</subject><subject>Humans</subject><subject>Hypercholesterolemia</subject><subject>Insight</subject><subject>Parents</subject><subject>Parents & parenting</subject><subject>Polls & surveys</subject><subject>Relatives</subject><subject>Undiagnosed</subject><subject>undiagnosed disease</subject><subject>Undiagnosed Diseases</subject><issn>1059-7700</issn><issn>1573-3599</issn><issn>1573-3599</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>7QJ</sourceid><recordid>eNp1kU1v1DAQhi1ERUvhwB9AlrjAIe3EH0nMoRJataVVJS70bDn2JPWSOIudgPbf18u2FSD1NCPNo0fv6CXkXQknJQA7XfdWnJScqRfkqJQ1L7hU6mXeQaqirgEOyeuU1gCgGlm-Ioecl9CAgCPy48KMftjSHgPO3tKIaRlmaqdxXIK3ZvZToD7QaCJSExxdgvOmD1NCR51PaBI-0rPH9JneBocxzZn1oafzHdJNNDa78Q056MyQ8O3DPCa3F-ffV1-Lm2-XV6svN4UVgqui5WXdOqxUa_NgtXGistzxrhFVp6RyiomKNQ3YStVth9g2srKNkBJaMBb4MTnbezdLO6KzGOZoBr2JfjRxqyfj9b-X4O90P_3SDYNasioLPj4I4vRzwTTr0SeLw2ACTkvSTEhRyV2EjH74D11PSwz5Pc0kKFYywZtMfdpTNk4pReyewpSgdxXqXYV6V2Fm3_-d_ol87CwDp3vgtx9w-7xJX1-uxB_lPeT9p_Y</recordid><startdate>202104</startdate><enddate>202104</enddate><creator>LeBlanc, Kimberly</creator><creator>Acosta, Maria T</creator><creator>Adams, David R.</creator><creator>Bacino, Carlos A.</creator><creator>Bademci, Guney</creator><creator>Bale, Jim</creator><creator>Bamshad, Michael</creator><creator>Barbouth, Deborah</creator><creator>Beggs, Alan H.</creator><creator>Bejerano, Gill</creator><creator>Bivona, Stephanie</creator><creator>Blue, Elizabeth</creator><creator>Bonnenmann, Carsten</creator><creator>Brokamp, Elly</creator><creator>Butte, Manish J.</creator><creator>Byrd, William E.</creator><creator>Chang, Ta Chen Peter</creator><creator>Coakley, Terra R.</creator><creator>Cobban, Laurel A.</creator><creator>Cogan, Joy D.</creator><creator>Coggins, Matthew</creator><creator>Colley, Heather A.</creator><creator>Cooper, Cynthia M.</creator><creator>Cunningham, Michael</creator><creator>Dasari, Surendra</creator><creator>Dayal, Jyoti G.</creator><creator>Deardorff, Matthew</creator><creator>Dell'Angelica, Esteban C.</creator><creator>Duncan, Laura</creator><creator>Eckstein, David J.</creator><creator>Emrick, Lisa T.</creator><creator>Eng, Christine M.</creator><creator>Esteves, Cecilia</creator><creator>Estwick, Tyra</creator><creator>Fieg, Elizabeth L.</creator><creator>Findley, Laurie C.</creator><creator>Fresard, Laure</creator><creator>Goldstein, David B.</creator><creator>Grajewski, Alana</creator><creator>Gropman, Andrea L.</creator><creator>Hahn, Sihoun</creator><creator>Hamid, Rizwan</creator><creator>High, Frances</creator><creator>Hing, Anne</creator><creator>Hisama, Fuki M.</creator><creator>Holm, Ingrid A.</creator><creator>Huang, Yong</creator><creator>Jarvik, Jeffrey</creator><creator>Kohane, Isaac S.</creator><creator>Kohler, Jennefer N.</creator><creator>Krakow, Deborah</creator><creator>Kravets, Elijah</creator><creator>Koziura, Mary</creator><creator>Lam, Byron</creator><creator>Lam, Christina</creator><creator>Lanpher, Brendan C.</creator><creator>Lau, C. 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Ron</creator><creator>Schaechter, Judy</creator><creator>Schedl, Timothy</creator><creator>Schoch, Kelly</creator><creator>Sharma, Prashant</creator><creator>Shin, Jimann</creator><creator>Sillari, Catherine H.</creator><creator>Sinsheimer, Janet S.</creator><creator>Smith, Kevin S.</creator><creator>Stoler, Joan M.</creator><creator>Sullivan, Jennifer A.</creator><creator>Sun, Angela</creator><creator>Tamburro, Cecelia P.</creator><creator>Telischi, Fred</creator><creator>Toro, Camilo</creator><creator>Vogel, Tiphanie P.</creator><creator>Wahl, Colleen E.</creator><creator>Perry, Katherine Wesseling</creator><creator>Westerfield, Monte</creator><creator>Wheeler, Matthew T.</creator><creator>Whitlock, Jordan</creator><creator>Woods, Jeremy D.</creator><creator>Yamamoto, Shinya</creator><creator>Yu, Guoyun</creator><creator>Zhao, Chunli</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QJ</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>202104</creationdate><title>Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice</title><author>LeBlanc, Kimberly ; Acosta, Maria T ; Adams, David R. ; Bacino, Carlos A. ; Bademci, Guney ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Beggs, Alan H. ; Bejerano, Gill ; Bivona, Stephanie ; Blue, Elizabeth ; Bonnenmann, Carsten ; Brokamp, Elly ; Butte, Manish J. ; Byrd, William E. ; Chang, Ta Chen Peter ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Colley, Heather A. ; Cooper, Cynthia M. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dell'Angelica, Esteban C. ; Duncan, Laura ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fresard, Laure ; Goldstein, David B. ; Grajewski, Alana ; Gropman, Andrea L. ; Hahn, Sihoun ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Huang, Yong ; Jarvik, Jeffrey ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Kravets, Elijah ; Koziura, Mary ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Lau, C. Christopher ; Lee, Brendan H. ; Lewis, Richard A. ; Maduro, Valerie V. ; Mamounas, Laura A. ; Maravilla, Kenneth ; Marom, Ronit ; McCormack, Colleen E. ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Nicholas, Sarah K. ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina G.S. ; Parker, Neil H. ; Raskind, Wendy ; Rao, Deepak A. ; Sacco, Ralph ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Tamburro, Cecelia P. ; Telischi, Fred ; Toro, Camilo ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yu, Guoyun ; Zhao, Chunli</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4439-b317bde69bcbde27ad46c3d3f846f959d92462880c697bfeeb856c84550b0ac03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adult</topic><topic>Adults</topic><topic>Communication</topic><topic>Counseling</topic><topic>Families & family life</topic><topic>Family</topic><topic>family communication</topic><topic>Genetic Counseling</topic><topic>genetic results</topic><topic>Genetic screening</topic><topic>Genetic Testing</topic><topic>Guardians</topic><topic>Health care</topic><topic>Hearing loss</topic><topic>Humans</topic><topic>Hypercholesterolemia</topic><topic>Insight</topic><topic>Parents</topic><topic>Parents & parenting</topic><topic>Polls & surveys</topic><topic>Relatives</topic><topic>Undiagnosed</topic><topic>undiagnosed disease</topic><topic>Undiagnosed Diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LeBlanc, Kimberly</creatorcontrib><creatorcontrib>Acosta, Maria T</creatorcontrib><creatorcontrib>Adams, David R.</creatorcontrib><creatorcontrib>Bacino, Carlos A.</creatorcontrib><creatorcontrib>Bademci, Guney</creatorcontrib><creatorcontrib>Bale, Jim</creatorcontrib><creatorcontrib>Bamshad, Michael</creatorcontrib><creatorcontrib>Barbouth, Deborah</creatorcontrib><creatorcontrib>Beggs, Alan H.</creatorcontrib><creatorcontrib>Bejerano, Gill</creatorcontrib><creatorcontrib>Bivona, Stephanie</creatorcontrib><creatorcontrib>Blue, Elizabeth</creatorcontrib><creatorcontrib>Bonnenmann, Carsten</creatorcontrib><creatorcontrib>Brokamp, Elly</creatorcontrib><creatorcontrib>Butte, Manish J.</creatorcontrib><creatorcontrib>Byrd, William E.</creatorcontrib><creatorcontrib>Chang, Ta Chen Peter</creatorcontrib><creatorcontrib>Coakley, Terra R.</creatorcontrib><creatorcontrib>Cobban, Laurel A.</creatorcontrib><creatorcontrib>Cogan, Joy D.</creatorcontrib><creatorcontrib>Coggins, Matthew</creatorcontrib><creatorcontrib>Colley, Heather A.</creatorcontrib><creatorcontrib>Cooper, Cynthia M.</creatorcontrib><creatorcontrib>Cunningham, Michael</creatorcontrib><creatorcontrib>Dasari, Surendra</creatorcontrib><creatorcontrib>Dayal, Jyoti G.</creatorcontrib><creatorcontrib>Deardorff, Matthew</creatorcontrib><creatorcontrib>Dell'Angelica, Esteban C.</creatorcontrib><creatorcontrib>Duncan, Laura</creatorcontrib><creatorcontrib>Eckstein, David J.</creatorcontrib><creatorcontrib>Emrick, Lisa T.</creatorcontrib><creatorcontrib>Eng, Christine M.</creatorcontrib><creatorcontrib>Esteves, Cecilia</creatorcontrib><creatorcontrib>Estwick, Tyra</creatorcontrib><creatorcontrib>Fieg, Elizabeth L.</creatorcontrib><creatorcontrib>Findley, Laurie C.</creatorcontrib><creatorcontrib>Fresard, Laure</creatorcontrib><creatorcontrib>Goldstein, David B.</creatorcontrib><creatorcontrib>Grajewski, Alana</creatorcontrib><creatorcontrib>Gropman, Andrea L.</creatorcontrib><creatorcontrib>Hahn, Sihoun</creatorcontrib><creatorcontrib>Hamid, Rizwan</creatorcontrib><creatorcontrib>High, Frances</creatorcontrib><creatorcontrib>Hing, Anne</creatorcontrib><creatorcontrib>Hisama, Fuki M.</creatorcontrib><creatorcontrib>Holm, Ingrid A.</creatorcontrib><creatorcontrib>Huang, Yong</creatorcontrib><creatorcontrib>Jarvik, Jeffrey</creatorcontrib><creatorcontrib>Kohane, Isaac S.</creatorcontrib><creatorcontrib>Kohler, Jennefer N.</creatorcontrib><creatorcontrib>Krakow, Deborah</creatorcontrib><creatorcontrib>Kravets, Elijah</creatorcontrib><creatorcontrib>Koziura, Mary</creatorcontrib><creatorcontrib>Lam, Byron</creatorcontrib><creatorcontrib>Lam, Christina</creatorcontrib><creatorcontrib>Lanpher, Brendan C.</creatorcontrib><creatorcontrib>Lau, C. Christopher</creatorcontrib><creatorcontrib>Lee, Brendan H.</creatorcontrib><creatorcontrib>Lewis, Richard A.</creatorcontrib><creatorcontrib>Maduro, Valerie V.</creatorcontrib><creatorcontrib>Mamounas, Laura A.</creatorcontrib><creatorcontrib>Maravilla, Kenneth</creatorcontrib><creatorcontrib>Marom, Ronit</creatorcontrib><creatorcontrib>McCormack, Colleen E.</creatorcontrib><creatorcontrib>McCray, Alexa T.</creatorcontrib><creatorcontrib>Mefford, Heather</creatorcontrib><creatorcontrib>Merritt, J. Lawrence</creatorcontrib><creatorcontrib>Nicholas, Sarah K.</creatorcontrib><creatorcontrib>Pak, Stephen</creatorcontrib><creatorcontrib>Pallais, J. Carl</creatorcontrib><creatorcontrib>Palmer, Christina G.S.</creatorcontrib><creatorcontrib>Parker, Neil H.</creatorcontrib><creatorcontrib>Raskind, Wendy</creatorcontrib><creatorcontrib>Rao, Deepak A.</creatorcontrib><creatorcontrib>Sacco, Ralph</creatorcontrib><creatorcontrib>Scott, C. Ron</creatorcontrib><creatorcontrib>Schaechter, Judy</creatorcontrib><creatorcontrib>Schedl, Timothy</creatorcontrib><creatorcontrib>Schoch, Kelly</creatorcontrib><creatorcontrib>Sharma, Prashant</creatorcontrib><creatorcontrib>Shin, Jimann</creatorcontrib><creatorcontrib>Sillari, Catherine H.</creatorcontrib><creatorcontrib>Sinsheimer, Janet S.</creatorcontrib><creatorcontrib>Smith, Kevin S.</creatorcontrib><creatorcontrib>Stoler, Joan M.</creatorcontrib><creatorcontrib>Sullivan, Jennifer A.</creatorcontrib><creatorcontrib>Sun, Angela</creatorcontrib><creatorcontrib>Tamburro, Cecelia P.</creatorcontrib><creatorcontrib>Telischi, Fred</creatorcontrib><creatorcontrib>Toro, Camilo</creatorcontrib><creatorcontrib>Vogel, Tiphanie P.</creatorcontrib><creatorcontrib>Wahl, Colleen E.</creatorcontrib><creatorcontrib>Perry, Katherine Wesseling</creatorcontrib><creatorcontrib>Westerfield, Monte</creatorcontrib><creatorcontrib>Wheeler, Matthew T.</creatorcontrib><creatorcontrib>Whitlock, Jordan</creatorcontrib><creatorcontrib>Woods, Jeremy D.</creatorcontrib><creatorcontrib>Yamamoto, Shinya</creatorcontrib><creatorcontrib>Yu, Guoyun</creatorcontrib><creatorcontrib>Zhao, Chunli</creatorcontrib><creatorcontrib>Undiagnosed Diseases Network</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Applied Social Sciences Index & Abstracts (ASSIA)</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of genetic counseling</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LeBlanc, Kimberly</au><au>Acosta, Maria T</au><au>Adams, David R.</au><au>Bacino, Carlos A.</au><au>Bademci, Guney</au><au>Bale, Jim</au><au>Bamshad, Michael</au><au>Barbouth, Deborah</au><au>Beggs, Alan H.</au><au>Bejerano, Gill</au><au>Bivona, Stephanie</au><au>Blue, Elizabeth</au><au>Bonnenmann, Carsten</au><au>Brokamp, Elly</au><au>Butte, Manish J.</au><au>Byrd, William E.</au><au>Chang, Ta Chen Peter</au><au>Coakley, Terra R.</au><au>Cobban, Laurel A.</au><au>Cogan, Joy D.</au><au>Coggins, Matthew</au><au>Colley, Heather A.</au><au>Cooper, Cynthia M.</au><au>Cunningham, Michael</au><au>Dasari, Surendra</au><au>Dayal, Jyoti G.</au><au>Deardorff, Matthew</au><au>Dell'Angelica, Esteban C.</au><au>Duncan, Laura</au><au>Eckstein, David J.</au><au>Emrick, Lisa T.</au><au>Eng, Christine M.</au><au>Esteves, Cecilia</au><au>Estwick, Tyra</au><au>Fieg, Elizabeth L.</au><au>Findley, Laurie C.</au><au>Fresard, Laure</au><au>Goldstein, David B.</au><au>Grajewski, Alana</au><au>Gropman, Andrea L.</au><au>Hahn, Sihoun</au><au>Hamid, Rizwan</au><au>High, Frances</au><au>Hing, Anne</au><au>Hisama, Fuki M.</au><au>Holm, Ingrid A.</au><au>Huang, Yong</au><au>Jarvik, Jeffrey</au><au>Kohane, Isaac S.</au><au>Kohler, Jennefer N.</au><au>Krakow, Deborah</au><au>Kravets, Elijah</au><au>Koziura, Mary</au><au>Lam, Byron</au><au>Lam, Christina</au><au>Lanpher, Brendan C.</au><au>Lau, C. Christopher</au><au>Lee, Brendan H.</au><au>Lewis, Richard A.</au><au>Maduro, Valerie V.</au><au>Mamounas, Laura A.</au><au>Maravilla, Kenneth</au><au>Marom, Ronit</au><au>McCormack, Colleen E.</au><au>McCray, Alexa T.</au><au>Mefford, Heather</au><au>Merritt, J. Lawrence</au><au>Nicholas, Sarah K.</au><au>Pak, Stephen</au><au>Pallais, J. Carl</au><au>Palmer, Christina G.S.</au><au>Parker, Neil H.</au><au>Raskind, Wendy</au><au>Rao, Deepak A.</au><au>Sacco, Ralph</au><au>Scott, C. Ron</au><au>Schaechter, Judy</au><au>Schedl, Timothy</au><au>Schoch, Kelly</au><au>Sharma, Prashant</au><au>Shin, Jimann</au><au>Sillari, Catherine H.</au><au>Sinsheimer, Janet S.</au><au>Smith, Kevin S.</au><au>Stoler, Joan M.</au><au>Sullivan, Jennifer A.</au><au>Sun, Angela</au><au>Tamburro, Cecelia P.</au><au>Telischi, Fred</au><au>Toro, Camilo</au><au>Vogel, Tiphanie P.</au><au>Wahl, Colleen E.</au><au>Perry, Katherine Wesseling</au><au>Westerfield, Monte</au><au>Wheeler, Matthew T.</au><au>Whitlock, Jordan</au><au>Woods, Jeremy D.</au><au>Yamamoto, Shinya</au><au>Yu, Guoyun</au><au>Zhao, Chunli</au><aucorp>Undiagnosed Diseases Network</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice</atitle><jtitle>Journal of genetic counseling</jtitle><addtitle>J Genet Couns</addtitle><date>2021-04</date><risdate>2021</risdate><volume>30</volume><issue>2</issue><spage>439</spage><epage>447</epage><pages>439-447</pages><issn>1059-7700</issn><issn>1573-3599</issn><eissn>1573-3599</eissn><abstract>Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>33108040</pmid><doi>10.1002/jgc4.1329</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1059-7700 |
| ispartof | Journal of genetic counseling, 2021-04, Vol.30 (2), p.439-447 |
| issn | 1059-7700 1573-3599 1573-3599 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_jgc4_1329 |
| source | Applied Social Sciences Index & Abstracts (ASSIA); MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Adults Communication Counseling Families & family life Family family communication Genetic Counseling genetic results Genetic screening Genetic Testing Guardians Health care Hearing loss Humans Hypercholesterolemia Insight Parents Parents & parenting Polls & surveys Relatives Undiagnosed undiagnosed disease Undiagnosed Diseases |
| title | Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice |
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