Why is genetic counselling important? (select all that apply)
Can improve understanding of the cause of a disease
Provides more information for treatment options
Testing to 'rule in' or 'rule out' a diagnosis
Provides recommendations about whether to have children - Answers Can improve
understanding of the cause of a disease
Provides more information for treatment options
Testing to 'rule in' or 'rule out' a diagnosis
'Child and family-centred care' refers to:
Making decisions that are best for the family but not best for the child
Providing access for families to stay with the child in the hospital
The value of attending to a family's unique values and context when thinking of acting in the
best interests of a child
Making decisions that are best for the family's financial situation - Answers The value of
attending to a family's unique values and context when thinking of acting in the best interests of
a child
In paediatric genetics, best interests of the child is the usual standard. This (select all that
apply):
Considers whether a course of action will maintain an "open future" for a child
Is determined based a set of quantifiable factors
Is partially based on a value judgment
Takes into account the impact on the family unit - Answers Considers whether a course of
action will maintain an "open future" for a child
Is partially based on a value judgment
, Takes into account the impact on the family unit
The identification of a pathogenic variant as the result of genetic testing (select all that apply):
Is causative of the clinical phenotype
May have implications for family members
Is inherited only
Is a sequence change to a previously unknown gene - Answers Is causative of the clinical
phenotype
May have implications for family members
A synonymous mutation may cause disease
True
False - Answers True
Some of the strategies used to determine if a result is likely a pathogenic variant or not (select
all that apply):
Examine the variant frequency in the 1000 Genomes Project data
Look for evidence of conservation of the variant across species
Look for reports of the variant in the scientific literature
Determine if the variant is de novo or inherited - Answers Examine the variant frequency in the
1000 Genomes Project data
Look for evidence of conservation of the variant across species
Look for reports of the variant in the scientific literature
Determine if the variant is de novo or inherited
Some of the complicating factors of disclosure in paediatric cases include (select all that apply):
Conflicts between members of the clinical team with respect to what to disclose