{"id":1053361,"date":"2012-04-22T15:48:00","date_gmt":"2012-04-22T15:48:00","guid":{"rendered":"http:\/\/www.immortalitymedicine.tv\/neurology\/the-21-genetic-conditions-that-should-be-reported-by-patients-if-found-incidentally-during-whole-genome-sequencing.php"},"modified":"2024-08-17T18:50:42","modified_gmt":"2024-08-17T22:50:42","slug":"the-21-genetic-conditions-that-should-be-reported-by-patients-if-found-incidentally-during-whole-genome-sequencing","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/neurology\/the-21-genetic-conditions-that-should-be-reported-by-patients-if-found-incidentally-during-whole-genome-sequencing.php","title":{"rendered":"The 21 genetic conditions that should be reported by patients if found incidentally during whole-genome sequencing"},"content":{"rendered":"

\"\"<\/a>
Illustration: DNA associates with histone proteins to form chromatin. Image source: Wikipedia<\/a>.<\/p>

There are no established guidelines on which genetic variants should be presented to physicians as incidental findings from whole-genome sequencing. A recent study showed that genetic specialists agreed that pathogenic mutations for 21 common genetic conditions should be disclosed by patients.<\/p>

For adult patients<\/b><\/p>

APC-associated polyposis
Fabry disease
Familial hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Pompe disease
PTEN hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson disease<\/p>

For pediatric patients (child)<\/b><\/p>

PTEN hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease<\/p>

Collecting family history predicts cancer risk better than 23andMe genetic testing, according to a recent study from the Cleveland Clinic<\/a>: <\/p>

References<\/b><\/p>

Exploring concordance and discordance for return of incidental findings from clinical sequencing. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Genet Med. 2012 Apr;14(4):405-10<\/a>. doi: 10.1038\/gim.2012.21. Epub 2012 Mar 15.<\/p>

Genome sequencing to add new twist to doctor-patient talks. American Medical Association, 2012<\/a>.<\/p>

Posted at Clinical Cases and Images<\/a>. Stay updated and subscribe<\/a>, follow us on Twitter<\/a> and connect on Facebook<\/a>.\"\"<\/p><\/div>

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Source:
http:\/\/feeds.feedburner.com\/CasesBlog<\/a><\/p>","protected":false},"excerpt":{"rendered":"

Illustration: DNA associates with histone proteins to form chromatin. Image source: Wikipedia.There are no established guidelines on which genetic variants should be presented to physicians as incidental findings from whole-genome sequencing. A recent study showed that genetic specialists agreed that … Continue reading →<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"limit_modified_date":"","last_modified_date":"","_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[1246864],"tags":[],"class_list":["post-1053361","post","type-post","status-publish","format-standard","hentry","category-neurology"],"modified_by":null,"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1053361"}],"collection":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/comments?post=1053361"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1053361\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/media?parent=1053361"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/categories?post=1053361"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/tags?post=1053361"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}