Personal genomics (22)

Examples of high throughput sequencing in clinical testing

Clinical panel sequencing using NGS

Cancer panel, pediatric panel ( prenatal and new born)

Clinical whole exome

BCM: proband whole exome sequencing

Target: medical history and physical exam findings suggest genetic etiology

NYGC: Clinical whole exome sequencing target

children or adults w/ undiagnosed condition suggesting a genetic caus

UCLA: exom

Target: patient with rare genetic disorder

Clinical exome sequencing advantages

Interrogating most of protein-coding at once

Ideal for disease without known casual mutations/genes

Clinical exome sequencing disadvantages

Large amounts of data,

false positives and false negatives

Variant analysis and interpretation is at infancy

Direct to consumer testing (DTC)

Genetic tests sold to consumers

Does not require healthcare professional

mostly not FDA approved

Up to state

Types of information given by DTC

disease risk susceptibility, mutation, ancestry/paternity, pharmacogenetics, diet /vitamin advice linked to genotype, lifestyle

23 and me stuff

Help people access and understand benefits form human genome > grew to test for traits ranging in severity (FDA issued warning ab inaccurate info) > limited carrier testing (carrier and benign traits)

23 and me current testing

Ancestry, Health predisposition, carrier status, wellness, pharmaco-genetics, cancer report, trait

Advantages of DTC

Increases access to info + public knowledge and genetics health

Improves health decision making, dosage awareness, ethical principles (autonomy + justice)

Risks of DTC

Lack of federal regulations, lack of consensus of disease markers, lack of interpretation of complex disease risk

Privacy and data ownership