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

Table 2. continued
HL7 Clinical Genomics Standard Specifications 259
CURRENT MEDICAL APPROACH ENVISIONED APPROACH
The pat ent s cons dered to be at h gh r sk,
and she s told she s a cand date for genet c
test ng. Th s ncludes a thorough d scuss on of
the pros and cons of test ng.
The order for test ng s ssued, and the fam ly
h story nformat on s ncluded w th the lab
requ s t on (requ red by the test ng laboratory).
The fam ly h story nformat on s transcr bed by
hand onto a paper lab requ s t on, wh ch s sent
to the test ng fac l ty along w th a blood sample.
At the central test ng fac l ty, the fam ly h story
data s typed nto the database (homegrown).
Test ng of the BRCA and BRCA genes for
mutat ons s undertaken.
The pat ent s cons dered to be at h gh r sk, and
she s told she s a cand date for genet c test ng.
Th s ncludes a thorough d scuss on of the pros
and cons of test ng.
The order for test ng s ssued, and the fam ly
h story nformat on s ncluded w th the lab
requ s t on (requ red by the test ng laboratory).
The data s sent to the test ng fac l ty through the
aforement oned fam ly h story Web Serv ces,
along w th a del very of a blood sample.
At the central test ng fac l ty, the HL message
rece ved from the fam ly h story Web Serv ces s
mported nto the database (homegrown).
Test ng of the BRCA and BRCA genes for
mutat ons s undertaken.
The results are entered nto the database. The results are entered nto the database.
Ident f ed mutat ons are assessed for funct onal
s gn f cance by determ n ng f they are
truncat ng (deleter ous), or f they are rrelevant
(no change n am no ac d coded by that
codon). All other mutat ons are compared to
known mutat ons to determ ne f nformat on s
ava lable on the r funct onal s gn f cance. In th s
case, a mutat on s dent f ed n BRCA and the
mutat on s deleter ous.
The actual mutat ons and the assessment of
funct onal s gn f cance are pr nted on paper,
wh ch s sent to the counselor.
The counselor types the results nto h s or her
databases, makes comments, and then pr nts
a f nal report, wh ch s sent to the pr mary
prov der and to the pat ent.
Ident f ed mutat ons are assessed for funct onal
s gn f cance by determ n ng f they are truncat ng
(deleter ous) or f they are rrelevant (no change
n am no ac d coded by that codon). All other
mutat ons are compared to known mutat ons to
determ ne f nformat on s ava lable on the r
funct onal s gn f cance. In th s case, a mutat on
s dent f ed n BRCA and the mutat on s
deleter ous.
The actual mutat ons and poss bly the ent re
gene sequences as well as the assessment of
funct onal s gn f cance are exported us ng the
HL Genotype model, wh ch s part of the fam ly
h story standard spec f cat on. The Genotype
model s known to cl n cal genom cs Web
Serv ces that annotate the genom c data by the
most updated knowledge and to assoc ate t w th
the pat ent cl n cal h story. The annotated results
are sent to the counselor.
The counselor rece ves the results through h s
or her fam ly h story program and further
annotates t. The counselor then sends the
nformat on to the pr mary prov der and to the
pat ent so both can update the r records. As n
all nformat on exchanges thus far, th s s
seamlessly accompl shed through publ cly
ava lable Web Serv ces that can transform all
known fam ly h story formats through HL
standards spec f cat ons.
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