Genomic Medicine

Question 1

Targeted vs Non-Targeted Sequencing?

Answer 1

• Targeted: Whole Exome sequencing

- Non-targeted: Whole genome sequencing

Question 2

What is an exome?

Answer 2

• Genes which are expressed! Only those that form proteins! More here than in clinome!

Question 3

What is a clinome?

Answer 3

• Genes which make up the phenotype! Smaller than exome!

Question 4

Different types of Next generation Sequencing?

Answer 4

• Whole Genome Sequencing
• Whole exome Sequencing
• Panel… you know EXACT genes!!! Only look at a few to see if they are the ones!

Question 5

Karyotype Test

Answer 5

• To check if you have all of the chromosomes! has to effect 5-10million base pairs for it to be visible

Question 6

Microarray?

Answer 6

• Has to have variation or mutation affeting 100,000 base pairs
• Considered GOLD STANDARD TEST

Question 7

Next generation sequencing (NGS)

Answer 7

• You can tell if there’s even just 1 base pair variation

Question 8

Challenges with NGS (Next generation sequencing)?

Answer 8

• Info on different populations
• Polymorphism vs mutations (actually affects us)…
• Storage of data

Question 9

How to approach a patient who comes in and find the diagnosis?

Answer 9

• Take family history and identify familiar and or ethnicity specific disorders and screen accordingly
• Consider Consanguinity!
• First do MICRO-ARRAY(THIS IS GOLD STANDARD)! If comes back negative… then do Next generation sequencing! (NGS!). By doing this you will made the diagnosis WAY quicker!

Question 10

Uses of Next generation sequencing?

Answer 10

• Prenatal testing
• Newborn screening
• Pharmacogenomics
• Can also follow patients along
• Explanations for families… what is being passed along in the family
• Screening
• Diagnostic

Question 11

Different types of Prenatal testing?

Answer 11

• Noninvasive: Screening, Risk assessment.

- Invasive: Diagnostic (do we want to confirm it? We know their risk), Confirmation of diagnosis

Question 12

Disruption

Answer 12

Process of development starts normal.. but then something interferes… example.. infection! Stroke in prenatal time.. and change in development of brain!

Question 13

Malformation

Answer 13

Easy to see malformation.. heart defect! carry it throughout life!

Question 14

Deformation

Answer 14

Start normal… electronic force that causes difference…

Question 15

Dysplasia

Answer 15

Malformation.. abnormal structure of cellular tissue! Ex.. collagen is strange.. thus bones are effected! Structure is affected!!!

Question 16

Association

Answer 16

Non random occurence of multiple anomalies which occur together more often than would be expected by change! Cannot be explained by a known etiology!