Using social networking and ar1ficial intelligence to collect FHx - - PowerPoint PPT Presentation

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Using social networking and ar1ficial intelligence to collect FHx - - PowerPoint PPT Presentation

Using social networking and ar1ficial intelligence to collect FHx Brandon M Welch, MS, PhD Assistant Professor Medical University of South Carolina Family history is important Cancer runs in families Life6me risk for breast cancer 70% 60%


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Using social networking and ar1ficial intelligence to collect FHx

Brandon M Welch, MS, PhD Assistant Professor Medical University of South Carolina
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Family history is important

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Cancer runs in families

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Life6me risk for breast cancer

0% 10% 20% 30% 40% 50% 60% 70% Average risk Smoker Drinker 1 FDR 2 FDR BRCA2 3 FDR BRCA1 Average risk Smoker Drinker 1 FDR 2 FDR BRCA2 3 FDR BRCA1
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Most people have cancer in the family

0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100% Smokes Close family (parent, sibling) Extended family (+ grandparents, aunts/uncles)

% of US populaPon

Smokes Breast cancer Colon cancer Prostate cancer Lung cancer
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It’s in the family, but where’s the gene?

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VUS = fly in gene6c tes6ng ointment

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VUSs are growing

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Use family history to make sense of VUSs

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Collec6on of FHx

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<4%

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Time needed 20-30 minutes Time spent 2.5 minutes

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30-90%

accurate

100% 0% Breast cancer Mental health
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Clinicians don’t have 1me to collect a bad FHx

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SLIDE 15 PMID: 15538320
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“painful to use”

  • Poor user interface design
  • Complicated and illogical quesPons
  • System crashes
  • High user workload

1 in 10

complete FHx

3 of 4

never finished

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Reimagine FHx collec6on

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SLIDE 23 PMID: 25868012

Leverage the family social network Interoperable with EHRs Provide care recommendations Support clinical research

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Chatbots

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How lik likely ely would you use ItRuns?

PMID: 26958272
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  • MVP complete
  • Open beta
  • Pilot studies
  • HL7 interoperability
Under development

Phase 1 Phase 2

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FHx risk assessment

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Family cancer risk assessment is a me mess

Risk for breast cancer Risk for colon cancer Risk for Lynch syndrome Risk for BRCA gene Risk for
  • varian cancer
Risk for Li Fraumeni syndrome Risk PancreaPc cancer Risk for FAP Risk for RAD51 gene

Couch Gail Claus Penn II Myriad Tyrer-Cuzick BRCAPRO BOADICEA BRST Wijnen MMRpro MMRPredict PREMM1,2,6

Risk for skin cancer

MELApro Pancpro

Risk for prostate cancer Cancer Guidelines 531 statements 55 guidelines published 11 different organizaPons
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SLIDE 39 Risk for breast cancer Risk for colon cancer Risk for Lynch syndrome Risk for BRCA gene Risk for
  • varian cancer
Risk for Li Fraumeni syndrome Risk PancreaPc cancer Risk for FAP Risk for RAD51 gene Risk for skin cancer Risk for prostate cancer

Unified Hereditary Cancer Assessment Tool (U-CHAT)

Unify the risk tools

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Unified Hereditary Cancer Assessment Tool (U-CHAT)

Under development
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Opportuni6es

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Cancer risk

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Personalize care

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Genome discovery

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Research recruitment

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Data collecPon and storage

as a pladorm

ApplicaPon & funcPonality

Open collabora6on plaTorm

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