{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Studwell CM"],"funding":["NHGRI NIH HHS","NIH HHS"],"pagination":["439-447"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8207526"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(2)"],"pubmed_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 "],"journal":["Journal of genetic counseling"],"pubmed_title":["Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice."],"pmcid":["PMC8207526"],"funding_grant_id":["U01 HG007703","F32 HG000130","U01HG007530","U01 HG007530","U01HG007703"],"pubmed_authors":["Dasari S","Cole FS","Undiagnosed Diseases Network","Studwell CM","Liu XZ","Emrick LT","Solem E","Wener M","Gutierrez I","Murdock DR","Novacic D","Malicdan MCV","Sutton S","Lincoln SA","Cunningham M","Amendola L","Butte MJ","Stoler JM","Bennet J","Bonner D","Moretti PM","Woods JD","Cooper CM","Loo SK","Smith EC","Hahn S","Coakley TR","Lau CC","Pallais JC","Fieg EL","Papp JC","Acosta MT","Kelley EG","Chang TCP","Posey JE","Lanza IR","Yu G","Silverman EK","Forghani I","Stong N","Dayal JG","Jarvik GP","Vogel TP","Adams DR","Deardorff M","Gropman AL","Duncan L","Krakow D","Zhao C","Byers P","Martin MG","Azamian MS","Bale J","Fisher PG","Fogel BL","Renteria G","Groden CA","Sinsheimer JS","Lanpher BC","Scott DA","McCray AT","Phillips JA","Whitlock J","Findley LC","Newman JH","Scott CR","Sweetser DA","Koziura M","Adam M","Alvey J","Tran AA","Macnamara EF","Carrasquillo O","Signer R","Cobban LA","Nickerson D","Berg-Rood B","Pusey BN","Marth G","Cogan JD","Schaechter J","Nicholas SK","Bivona S","Tabor HK","Sharma P","Wenger T","Bejerano G","Estwick T","Dhar SU","Jarvik J","Craigen WJ","Might M","Boyd B","Kennedy J","Isasi R","Tucker BM","Karaviti L","Pak S","Zuchner S","Bayrak-Toydemir P","Hisama FM","Martin BA","Hayes N","Longo N","Rosenfeld JA","Jamal F","Mao R","Liu P","Sullivan K","Mamounas LA","Wallace S","Lalani SR","Dorrani N","Parker NH","Blue E","Palmer CGS","Saporta M","Sillari CH","Orengo JP","Thorson W","Telischi F","Wheeler MT","Hing A","Horike-Pyne M","Martinez-Agosto JA","Bamshad M","Tekin M","Eng CM","D'Souza P","Hom J","Kravets E","Fresard L","Draper DD","Nelson SF","Smith KS","Sybert V","Krasnewich DM","Walsh CA","Bohnsack J","Urv TK","Tifft CJ","Baldridge D","Lewis RA","Holm IA","Sacco R","Solnica-Krezel L","Clark GD","Markello TC","McCauley J","McCormack CE","Rodan LH","Byrd WE","Kohane IS","Beck A","Perry KW","Samson SL","Potocki L","Grajewski A","Crouse AB","Glass I","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Lee H","Shashi V","Behrens E","Nath A","Botto L","Ashley EA","Davids M","Bacino CA","Chanprasert S","Majcherska MM","Alejandro ME","Eckstein DJ","Barbouth D","Briere LC","Fernandez L","Ferreira C","Quinlan A","Krier JB","Ruzhnikov M","Agrawal PB","Maravilla K","Beggs AH","Marwaha S","Nakano-Okuno M","Huang Y","Bonnenmann C","Hamid R","Zastrow DB","Reuter CM","Dai H","Raja AN","Spillmann RC","Sisco K","Sun A","Vanderver A","Balasubramanyam A","Burrage LC","Morimoto M","Shin J","Baker E","Brown G","Schoch K","Marom R","Manolio TA","Toro C","Pace L","Lee BH","Chao HT","Esteves C","Huang A","Oglesbee D","Hanchard NA","Velinder M","Yang J","McConkie-Rosell A","Morava E","Maduro VV","Yamamoto S","Viskochil D","Carey J","Goldman AM","Sampson JB","Levitt R","Merritt JL","Bademci G","Falk M","High F","Bernstein JA","Berry GT","Bican A","Burke EA","Brokamp E","LeBlanc K","Goldstein DB","Lam B","Lam C","Walley NM","Robertson AK","Hassey K","Cope H","Earl D","McGee E","MacRae CA","Mefford H","Sullivan JA","Doherty D","Mirzaa G","Rosenwasser N","Maas RL","Colley HA","Gahl WA","Loscalzo J","Mulvihill JJ","Schedl T","Jayadev S","Rao DA","Dipple K","Wolfe LA","Korrick S","Raskind W","Dell'Angelica EC","Johnston JM","Godfrey RA","Tan QK","Westerfield M","Douine ED","Wahl CE","Golden-Grant K","Tamburro CP"],"additional_accession":[]},"is_claimable":false,"name":"Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.","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 ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2025-04-22T21:56:32.565Z","creation":"2025-04-06T03:52:10.451Z"},"accession":"S-EPMC8207526","cross_references":{"pubmed":["33108040"],"doi":["10.1002/jgc4.1329"]}}