Semantic Web-Based Information Systems: State-of-the-Art ...
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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 />
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