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Shabo & Hughes<br />

Table 2. How semantic interoperability <strong>of</strong> family history information can improve<br />

current practices<br />

CURRENT MEDICAL APPROACH ENVISIONED APPROACH<br />

Martha Franc s s a -year-old woman w th<br />

ovar an cancer. She has a fam ly h story <strong>of</strong><br />

breast and ovar an cancer and bel eves she<br />

may be carry ng a BRCA or BRCA mutat on<br />

(wh ch pred sposes to breast and ovar an<br />

cancer).<br />

She downloads <strong>the</strong> Surgeon General’s Fam ly<br />

H story tool onto her computer at home and<br />

enters her fam ly h story.<br />

She <strong>the</strong>n pr nts out her nformat on onto paper<br />

and br ngs <strong>the</strong> paper to her cl n c an.<br />

Her cl n c an types <strong>the</strong> nformat on from <strong>the</strong><br />

paper nto <strong>the</strong> homegrown electron c med cal<br />

record (EHR).<br />

The cl n c an rev ews <strong>the</strong> fam ly h story w th <strong>the</strong><br />

pat ent and makes correct ons and add t ons n<br />

<strong>the</strong> EHR.<br />

The pat ent s cons dered to be at h gh r sk <strong>of</strong><br />

hav ng a mutat on, and th s nformat on s g ven<br />

to her.<br />

Martha Franc s s a -year-old woman w th<br />

ovar an cancer. She has a fam ly h story <strong>of</strong><br />

breast and ovar an cancer and bel eves she may<br />

be carry ng a BRCA or BRCA mutat on (wh ch<br />

pred sposes to breast and ovar an cancer).<br />

She uses <strong>the</strong> Surgeon General’s Fam ly H story<br />

<strong>Web</strong>-based tool from her home and enters her<br />

fam ly h story.<br />

She <strong>the</strong>n sends <strong>the</strong> data to her cl n c an (<strong>the</strong><br />

Surgeon General’s tool uses <strong>Web</strong> Serv ces to<br />

export ts data to <strong>the</strong> HL format and <strong>the</strong>n to<br />

transform t to <strong>the</strong> cl n c an's system format).<br />

Her cl n c an s able to see her fam ly h story as<br />

part <strong>of</strong> <strong>the</strong> homegrown electron c health record<br />

(EHR) system used n <strong>the</strong> cl n c an's <strong>of</strong>f ce.<br />

The cl n c an rev ews <strong>the</strong> fam ly h story w th <strong>the</strong><br />

pat ent and makes correct ons and add t ons n<br />

fam ly h story nformat on <strong>of</strong> <strong>the</strong> pat ent's EHR.<br />

The pat ent s cons dered to be at h gh r sk <strong>of</strong><br />

hav ng a mutat on, and th s nformat on s g ven<br />

to her.<br />

She s referred to a r sk cl n c. She s referred to a r sk cl n c.<br />

Franc s' fam ly h story deta ls are pr nted on<br />

paper and sent to <strong>the</strong> r sk cl n c.<br />

The counselor at <strong>the</strong> r sk cl n c (nurse<br />

genet c st, nurse pract t oner, genet c<br />

counselor, doctor, etc.) types <strong>the</strong> data nto a<br />

number <strong>of</strong> programs: ( ) Progeny (Progeny,<br />

00 ) to draw a ped gree; ( ) CAGENE<br />

(CaGene, 00 ) to run r sk models; and ( ) a<br />

homegrown M cros<strong>of</strong>t Access database to hold<br />

var ous and sundry o<strong>the</strong>r data. The counselor<br />

<strong>the</strong>n rev ews <strong>the</strong> fam ly h story nformat on<br />

collected by <strong>the</strong> pr mary cl n c an, ed ts t,<br />

rev ews results <strong>of</strong> <strong>the</strong> r sk model algor thms,<br />

dec des what genet c syndrome her fam ly<br />

m ght have, and categor zes <strong>the</strong> pat ent as to<br />

degree <strong>of</strong> r sk.<br />

The counselor speaks w th <strong>the</strong> pat ent and<br />

adds add t onal nformat on to <strong>the</strong> databases.<br />

If <strong>the</strong>re have been any changes or add t ons to<br />

<strong>the</strong> fam ly h story, <strong>the</strong> counselor runs <strong>the</strong><br />

computer models aga n.<br />

Franc s' fam ly h story deta ls are sent to <strong>the</strong> r sk<br />

cl n c (<strong>the</strong> cl n c an's system uses <strong>Web</strong> Serv ces<br />

to export ts data to <strong>the</strong> HL format and <strong>the</strong>n to<br />

transform t to <strong>the</strong> r sk cl n c's requ red format).<br />

The counselor at <strong>the</strong> r sk cl n c (nurse genet c st,<br />

nurse pract t oner, genet c counselor, doctor,<br />

etc.) mports <strong>the</strong> pat ent's fam ly h story<br />

nformat on nto a number <strong>of</strong> programs: ( )<br />

Progeny (Progeny, 00 ) to draw a ped gree; ( )<br />

CAGENE (CaGene, 00 ) to run r sk models;<br />

and ( ) a homegrown M cros<strong>of</strong>t Access<br />

database to hold var ous and sundry o<strong>the</strong>r data.<br />

The counselor <strong>the</strong>n rev ews <strong>the</strong> fam ly h story<br />

nformat on collected by <strong>the</strong> pr mary cl n c an,<br />

ed ts t, rev ews results <strong>of</strong> <strong>the</strong> r sk model<br />

algor thms, dec des what genet c syndrome her<br />

fam ly m ght have, and categor zes <strong>the</strong> pat ent<br />

as to degree <strong>of</strong> r sk.<br />

The counselor speaks w th <strong>the</strong> pat ent and adds<br />

add t onal nformat on to <strong>the</strong> databases.<br />

If <strong>the</strong>re have been any changes or add t ons to<br />

<strong>the</strong> fam ly h story, <strong>the</strong> counselor runs <strong>the</strong><br />

computer models aga n.<br />

Copyright © 2007, Idea Group Inc. Copying or distributing in print or electronic forms without written permission <strong>of</strong><br />

Idea Group Inc. is prohibited.

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