Week 4

Question 1

How can the ASD model show how different disorders are affected

Answer 1

Certain things that affect ASD and fill up that cup can also fill up other cups of other neurlogical phenotypes there may be some overlap basically showing co-morbdiity

Question 2

What is a major gene that can contribute to other different gentic contributions

Answer 2

ASTN2 can contribute to disorders such as austism specturm OCD and attention deficit hyperactivty disorder

Question 3

What can ASRN2 do

Answer 3

also a contributor to different minor genetic contributions for two different neurlogical disorders

Question 4

What are the three different types of variants

Answer 4

Pathogenic or significant variant which can cause health
Variant of unknown signficant could be pathogenic or begning need to be studies there is not enough information to determine if it contributes
Benign or normal varian which does not impact health development

Question 5

What are some key points when discussing variants and the three different types

Answer 5

When reviewing the three different types, it is all associated with how much data you have, varying or unknown means that there is not enough data, especially in regard to the others we also have genetiv variants and the classfication of variants may change over time as new information becomes available

Question 6

What are most individuals with ASD reffered to as

Answer 6

Idopathic isolated or essential ASD meaning they have ASD and no other health conditions about 75% of them

Question 7

How many people have ASD is part of a syndrome

Answer 7

25%

Question 8

What does genetic testing detect

Answer 8

A contributory genetic variant in 20-30% of individuals with ASD most of the genetic variants identified are associated with a known genetic syndrome no single genetic variant actually 1% of the time. Most families who undergo genetic testing do not receive a causal genetic result

Question 9

What is certantiy vs uncertanitny

Answer 9

Certainty bengin and pathogenic variants and uncertainty variants uncertain significance

Question 10

What is the goal of genetic counselling

Answer 10

Understanding of some basic genetic concepts is critical for more specfici discussions regarding the role of genetics in ASD visual aids can help

Question 11

What are some aspects of how you would talk to someone about their etiology

Answer 11

Review purpose of genetic testing
Explore familys expectations and hope
Discuss likelihood of identifying a genetic etiology
Discuss likelihood that reulst will impact medical management in ASD or impact recurrence risk

Question 12

What is the etiology of asd

Answer 12

Explore familys’ understanding of what causes ASD
review multifactorial inheritance
explain genetic heterogeneity even within members of the same family
Discuss the overlap of genes/variants across related conditions

Question 12

What are some important matters to assess expectations

Answer 12

Families may have unrealestic exepectations regarding implications of genetic test reults it is important to align expectations as this influences how individuals process information
large portion of the general population has limited genetic literacy

Question 13

How would you explain genetic tests to someone as a genetic counsellor

Answer 13

Explain the genomic test that were utilized to investigate the genetic etiology of ASSD in your patient, use available tools to facilitate this discussion

Question 14

What are some genetic methods

Answer 14

NGS
WGS
WES
Target gene NGS

Question 15

What is important about understanding of causes

Answer 15

Clarify any misconceptions regarding causes of ASD, particularly those that may contribute to feelings of guilt and blame
Understanding the scope of a test provides a foundation for discussing the results of the test

Question 16

What are the genetic result and significance

Answer 16

Discuss variants identified and available information regarding contribution to ASD
Include discussion regarding any uncertanity be cognisant that association is not causation
Summarize impact of risk variant referring back to cup model
Discuss what addition investiagitons are recommended

Question 17

What are the parts of the psychoscoial impact

Answer 17

Explore familys perception of the result and response
Refer to gentic counsellor if further support is needed
Offer genetic testing for other family members if indicated