[{"data":1,"prerenderedAt":74},["ShallowReactive",2],{"\u002Fresearchers\u002Frisk-assessment":3},{"id":4,"title":5,"body":6,"description":63,"extension":66,"meta":67,"navigation":68,"path":69,"printable":68,"seo":70,"spanish":71,"stem":72,"__hash__":73},"page\u002Fresearchers\u002Frisk-assessment.md","Risk Assessment",{"type":7,"value":8,"toc":62},"minimark",[9],[10,11,12,19,23,29,32,35,38,42,46,54],"layout-content",{},[13,14],"heading",{"className":15,"level":18,"text":5},[16,17],"rvt-ts-lg","rvt-text-uppercase","1",[20,21,22],"p",{},"Parkinson’s disease (PD) is typically multifactorial, and many of the gene variants have incomplete penetrance and variable expression.",[13,24],{"className":25,"level":27,"text":28},[26],"rvt-ts-md","2","Guidelines for medical and family history intake",[20,30,31],{},"Intake should include specific clinical information on both the patient and key relatives including: (1) age of onset and\u002For diagnosis, (2) related neurologic or neurodegenerative conditions, and (3) prior genetic testing for the patient or family members.",[20,33,34],{},"Early deaths, adoptions, and small family structures should be documented as this can result in under ascertainment of cases when doing risk assessment.",[20,36,37],{},"Ethnicity of the family on both maternal and paternal sides should be noted, including Ashkenazi Jewish ancestry.",[13,39],{"className":40,"level":27,"text":41},[26],"Important factors to consider during PD risk assessment",[43,44],"accordion",{":accordions":45},"[{\"title\":\"Baseline risk in general population\",\"content\":\"\u003Cul>\\n  \u003Cli>3-4% lifetime risk in general population (GeneReviews)\u003C\u002Fli>\\n  \u003Cli>Overall, idiopathic PD is more common in males.\u003C\u002Fli>\\n  \u003Cli>Late-onset PD is considered to be multifactorial in most cases.\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"},{\"title\":\"Age of onset\",\"content\":\"\u003Cul>\\n  \u003Cli>Early-onset PD (EOPD, or YOPD; when diagnosed <50 years old) is more likely to be genetic, and more likely to follow autosomal recessive inheritance.\u003C\u002Fli>\\n  \u003Cli>With increasing age, the risk of PD increases.\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"},{\"title\":\"Family history\",\"content\":\"\u003Cul>\\n  \u003Cli>10-15% of PD is familial.\u003C\u002Fli>\\n  \u003Cli>The lifetime risk of PD increases to 6-8% if an individual has a family member with PD; however, with a family history suggesting autosomal dominant or autosomal recessive inheritance, the individual’s lifetime risk can be even higher than that (based on discovered or undiscovered genes).\u003C\u002Fli>\\n  \u003Cli>Relevant family history can include PD or related conditions (essential tremor, parkinsonism, dementia with Lewy bodies [LBD], progressive supranuclear palsy [PSP], corticobasal syndrome [CBS], multiple system atrophy [MSA]), or Gaucher disease.\u003C\u002Fli>\\n  \u003Cli>Individuals without a family history have been reported to have a genetic variant.\u003C\u002Fli>\\n  \u003Cli>Reduced penetrance & variable expressivity in PD genetics can affect risk assessment.\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"},{\"title\":\"Ancestry\",\"content\":\"\u003Cul>\\n  \u003Cli>Any ancestry can have a genetic variant.\u003C\u002Fli>\\n  \u003Cli>Ancestry impacts risk of developing PD, depending on the variant.\u003C\u002Fli>\\n  \u003Cli>Founder variants are known in Ashkenazi Jewish (\u003Cspan class='gene-text'>GBA1\u003C\u002Fspan>, \u003Cspan class='gene-text'>LRRK2\u003C\u002Fspan>), North African Berber and Spanish Basque (\u003Cspan class='gene-text'>LRRK2\u003C\u002Fspan>), and Europeans (\u003Cspan class='gene-text'>GBA1\u003C\u002Fspan>, other).\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"},{\"title\":\"Patient or relative with a KNOWN family variant\",\"content\":\"\u003Cul>\\n  \u003Cli>After genetic testing, the risk counseling may be complicated by the reduced penetrance or variable expressivity seen in known variants.\u003C\u002Fli>\\n  \u003Cli>Specific values for penetrance can vary based on age, specific gene variants, ethnicity, and other risk factors.\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"},{\"title\":\"Patient had previous NEGATIVE results\",\"content\":\"\u003Cul>\\n  \u003Cli>More comprehensive testing may be available if the testing was limited to DTC, single-gene, multi-site, or research only. DTC\u002Fresearch testing may only include specific variants, and some commercial panel testing may not include all genes or variants relevant to PD.\u003C\u002Fli>\\n  \u003Cli>A negative genetic test result does not entirely rule out a genetic contribution to disease.\u003C\u002Fli>\\n\u003C\u002Ful>\\n\"}]",[20,47,48],{},[49,50,53],"span",{"className":51},[52],"citation","*adapted from NSGC Neurogenetics Special Interest Group (SIG) Movement Disorder Working Group Parkinson’s disease Resource Toolkit",[20,55,56,57],{},"For more information on the genetics of Parkinson's disease, please view our ",[58,59,61],"a",{"href":60},"\u002Fresearchers\u002Farticles-resources.html","list of additional references and articles.",{"title":63,"searchDepth":64,"depth":64,"links":65},"",2,[],"md",{},true,"\u002Fresearchers\u002Frisk-assessment",{"title":5,"description":63},false,"researchers\u002Frisk-assessment","NbauxExaYpTZ_ViMFGc3RAdPF4hQghNDdPORBcGaF-c",1776707457378]