genetic tests & technologies

Question 1

what are 4 types of genetic tests when testing for genetic conditions

Answer 1

diagnostic
carrier
predictive
prenatal

Question 2

what is a type of genetic test to clarify familial relationships

Answer 2

paternity testing

Question 3

what is a type of genetic test used to determine identity

Answer 3

genetic finger printing

Question 4

where is genetic finger printing usually done

Answer 4

in a forensic laboratory

Question 5

where is paternity testing usually done

Answer 5

in a private sector or a forensic laboratory

Question 6

where are tests for genetic conditions usually done

Answer 6

they are offered in clinical genetics

Question 7

give 7 reasons for carrying out genetic testing

Answer 7

1) to confirm a clinical diagnosis
2) to give info about prognosis
3) to inform management
4) to allow presymptomatic/predictive testing in close relatives
5) for carrier testing
6) to give accurate recurrence risks
7) for prenatal diagnosis

Question 8

what is sanger sequencing

Answer 8

uses PCR to amplify regions of interest followed by sequencing of products
useful for single gene testing

Question 9

what is next generation sequencing (NGS)

Answer 9

a massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed.
used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA
can sequence whole human genome in 1 day
multi-gene panels, whole exome/genomes

Question 10

what is next-generation sequencing (NGS)

Answer 10

a massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed.
used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA
can sequence whole human genome in 1 day
multi-gene panels, whole exome/genomes

Question 11

compare the starting point of sanger and NGS

Answer 11

sanger - single start point (primer)

NGS - library of DNA fragments

Question 12

compare the sequencing of sanger and NGS

Answer 12

sanger - single DNA fragment sequenced

NGS - massively parallel sequencing

Question 13

compare cost of sanger and NGS

Answer 13

sanger - high cost per gene

NGS - low cost per gene

Question 14

compare time of sanger and NGS

Answer 14

sanger - time consuming

NGS - fast

Question 15

compare data interpretation of sanger and NGS

Answer 15

sanger - simple analysis (read the sequence)

NGS - huge amounts of raw data to interpret

Question 16

compare the accuracy of sanger and NGS

Answer 16

sanger - very accurate

NGS - moderately accurate

Question 17

how do you analyse data from NGS

Answer 17

NGS generates millions of short DNA fragments that needed to be filtered for quality and aligned to a reference sequence

• need to reference genome
• identify variants
• interpret variants
• insilico tools

Question 18

what is targeted panel sequencing

Answer 18

useful tools for analyzing specific mutations in a given sample

Question 19

pros of targeted panel sequencing

Answer 19

select specific genes to sequence
less noise
fewer variants of uncertain significance

Question 20

con of targeted panel sequencing

Answer 20

panels need to be updated

Question 21

what are incidental/secondary findings

Answer 21

additional findings on a patient or research participant that may or may not have potential health implications and clinical significance, that are discovered during the course of a clinical or research investigation but are beyond the aims of the original test or investigation