Clinical Genomics: Unlocking Personalised Medicine
Key Technologies in Clinical Genomics
Next-Generation
Sequencing
Rapid,high-throughputDNA sequencingforcomprehensive analysis.
Cytogenetics
Microarrays
Analysinggeneexpressionand detectinggeneticvariations efficiently.
Real-Time PCR
Quantifyinggeneexpressionlevels withhighprecision.
Analysingchromosomestructureandidentifying abnormalities.
Bioinformatics
Managingandinterpretinglargegenomicdatasetseffectively.
Step 1: Sample Collection and Preparation
Sample Collection
Blood,saliva,ortissuesamplesarecollectedfrompatients.
DNA/RNA Extraction
Usingstandardisedprotocols,DNA/RNAisextractedfromsamples.
Quality Control
AssessingDNA/RNAintegrityandconcentrationiscrucialforsuccess.
Library Preparation
DNA/RNAisconvertedintoaformatsuitableforsequencingplatforms.
Step 2: Sequencing and Data Acquisition
Platform Usage
NGSplatformslikeIllumina areusedforhigh-throughput sequencing.
Fragment
Sequencing
MillionsofDNA/RNA fragmentsaresequenced simultaneouslyandrapidly.
Raw Data Generation
Rawdataisgeneratedin FASTQformat,including qualityscores.
Sequencing Depth
Typicalcoverageis30xfor accuratewhole-genome sequencing.
Step 3: Bioinformatics Analysis
Data Processing
Rawsequencingdataisprocessedthroughbioinformaticspipelines.
Variant Calling
GeneticvariationslikeSNPsandindelsareidentifiedusingGATK.
Alignment
ReadsaremappedtoareferencegenomeusingtoolslikeBWA.
3
4 Annotation
BiologicalsignificanceisassignedtovariantsusingdatabasessuchasClinVar.
Step 4: Interpretation and Reporting
Clinical Interpretation
Genomicvariantsareinterpretedby clinicalmoleculargeneticists.
Pathogenicity Assessment
Pathogenicityisassessedfollowing establishedguidelineslikeACMG/AMP.
Report Generation
Clinicalreportsaregeneratedwith actionablerecommendationsforpatient care.
Example Use Case: Cancer Genomics
Tumour Sequencing
Tumoursamplesaresequencedtoidentifyactionablemutations.
Targeted Therapy
ResultsguideselectionoftargetedtherapieslikeEGFRinhibitors.
Treatment Monitoring
Monitoringtreatmentresponseanddetectingresistancemechanismsiskey.
Personalised Outcomes
Improvingpatientoutcomesthroughhighlypersonalisedstrategies.
The Future of Clinical Genomics
Theintegrationofgenomicsintoroutineclinicalpracticeisexpanding.Newbiomarkersandtargetedtherapiesarecontinuouslydeveloping.
Ethicalconsiderationsregardingdataprivacyandconsentremaincrucial.
