Categorization of Genetic Tests Clinical validity accuracy of the - - PDF document

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Feb 24, 2023 395 likes •444 views

Categorization of Genetic Tests Clinical validity accuracy of the test to predict an outcome Often uncertain for new genetic tests-limited and potentially biased populations e.g. BRCA1, BRCA2 Availability of Effective

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Categorization of Genetic Tests

Clinical validity –accuracy of the test to

predict an outcome

– Often uncertain for new genetic tests-limited and potentially biased populations –e.g. BRCA1, BRCA2

Availability of Effective Treatment
Burke et al. Am J Med Gen. 2001;106:233-240

Categorization of Genetic Tests to Identify Ethical Legal and Social Implications

Effective Treatment-Yes Effective Treatment -No High Clinical Validity (high penetrance) PKU, MEN2, FAP HD Low Clinical Validity (low penetrance) HFE gene, LRRK2 (hemochromatosis) ApoE

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Utility of Predictive Testing

BMJ 2001;322:1052-1056

Parkinson Disease

Postural change Rest tremor Bradykinesia Rigidity

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Genetics of Parkinson’s Disease

66 Comp. 1p32 Unknown Park 10 AR 1 p36 Unknown Park 9 51 AD 12p11.2-q13 LRRK2 Park 8 33 AR 1p36 DJ1 Park 7 40 AR 1p35-p36 PINK 1 Park 6 50 AD 4p14 UCHL1 Park 5 59 AD 2p13 Unknown Park 3 <40 AR 6q25.2-q27 Parkin Park 2 45 AD 4q.21.3 α synuclein Park 1/4 Age onset Inherit. Chromosome Gene Locus

OR % LRRK2 Total Subjects 1.0 (0.1, 8.3) 2.6 1 38 NJ w FH 2.7 7 263 NJ w/o FH 2.7 (1.1, 6.8) 3.1 10 323 NJ PD 216 NJ controls 4.2 (1.4, 12.7) 26.1 6 23 AJ w FH 7.7 12 155 AJ w/o FH 3.5 (1.6, 7.7) 9.9 18 181 AJ PD 2 2 98 AJControls 9.2 (2.2, 38.8) 5.6 28 504 PD 0.6 3 314 Controls

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