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PFOS1 - 101 Outline - Clinical Genomics

The document discusses the objectives and outline of a lecture on clinical genomics. It covers topics like the impact of genomics on medicine, applications of genomic technologies like microarrays and sequencing in clinical settings for mutation detection, disease fingerprinting, and prenatal screening.

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Chris Jardine Li
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43 views2 pages

PFOS1 - 101 Outline - Clinical Genomics

The document discusses the objectives and outline of a lecture on clinical genomics. It covers topics like the impact of genomics on medicine, applications of genomic technologies like microarrays and sequencing in clinical settings for mutation detection, disease fingerprinting, and prenatal screening.

Uploaded by

Chris Jardine Li
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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PFOS1_101

MEDICAL GENETICS IV – Clinical Genomics


CHAN Wai Yee Email: [email protected] Tel: 3943-1383

Objectives

At the end of the lectures, the student should:

(1) To have a good understanding of the impact of genomics on biomedical sciences


(3) To appreciate the potential applications of genomics in clinical medicine.

Outline

I. Clinical Genomics

Genome - an organism’s complete set of genes and chromosomes.


Genomics - the scientific discipline of mapping, sequencing, and analyzing genomes.

Clinical genetics – application of genetics to medical practice, response to acute


presentation, more clinical and pediatrics in orientation

Clinical genomics – predictive, preventive, and personalized, common adult diseases and
complex trait.

II. Clinical application of genomics

A. Genome-wide mutation detection microarrays:


Single gene mutation,
Copy number variation
B. Molecular fingerprinting of diseases
C. Whole genome sequencing
Personal genome
Prenatal diagnosis

A. Microarray-based applications.

(1) Mutation detection using microarrays similar in principle to reverse allele specific
oligonucleotide (ASO)

1
Immobilized oligonucleotide probes hybridize to labeled target sequences

(2) Copy number variance (CNV)

Another common form of genetic variation.


Deletions and/or duplications of DNA segments 1 kb or larger.
Throughout the genome; as much as 12% or more of the human genome.
Impact on disease susceptibility and ability to adapt to the environment.
Detected using array-based comparative genomic hybridization (aCGH).

aCGH application:
Improvement over karyotyping
Use bacterial artificial chromosomes, cosmids, or oligonucleotides as probes.
Compared to FISH, Array-CGH is more capable of detecting insertions and
duplications

B. Molecular fingerprinting of Diseases

Expression profiling to generate molecular signatures:

1. Disease classification, e.g. acute lymphoblastic leukemia, diffuse large B-cell


lymphoma
2. Outcome prediction, prognosis, treatment response, e.g. ALL, DLBCL
3. Pathogenic mechanism, metastatic signature, e.g. adenocarcinoma

C. Whole genome sequencing

Prevention, diagnosis, treatment

(1) Personal genome to reveal mutated gene

Use of genomic diagnosis to provide more rational and personalized management


of common diseases.

(2) Sequencing of fetal DNA in maternal circulation

Detection of fetal aneuploidy

REFERENCES:

1. Korf, BR. Integration of genomics into medical practice. Discov Med.


16(89):241-8, 2013.
2. Lo YMD and Chiu RWK. Genomic analysis of fetal nucleic acids in maternal
blood. Annu Rev Genomics Hum Genet. 13:285-306, 2012.

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