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Semester 5 PMNM Exam 9 > Genetics Counseling > Flashcards

Genetics Counseling Flashcards

1
Q

Why should PTs know about genetics

A

PTs are integral members of the health care team
PTs are among first contacts for parents of children exhibiting poor mm tone and delayed motor development
Knowledge of genetics will help PTs manage and care for their patients more effectively

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2
Q

Pt related benefits of genetics knowledge by PTs

A

Generation of appropriate and timely referrals
Provision of accurate info
Understanding terminology
Effective advocate for pts

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3
Q

Will your pts ask about genetics? - What percentage of patients seen by PTs had a condition that had a genetic component

A

30%

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4
Q

Will your pts ask about genetics? - What percent of PTs reported that they had discussed genetic component of their problems with the patient

A

68%

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5
Q

Will your pts ask about genetics? - what percent of PTs provided counseling about genetic concerns to some of their clients

A

18%

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6
Q

What do PTs need to know about genetics

A

Examine one’s competence of practice on a regular basis - identifying areas where info related to genetics would be beneficial
Understand the social and psych implications of genetic services
Know how and when to make a referral

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7
Q

Reasons to consider a genetics consultation - pediatric

A 
Abnormal newborn screening results
Presence of birth defects
Abnormalities in growth
Intellectual disability or developmental delay
Seizure disorder
Blindness or Deafness
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8
Q

Reasons to consider a genetics consultation - Adult

A

Personal or family hx of hereditary CA
Development of degenerative diseases
Other adult onset genetic disease

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9
Q

Reasons to consider genetics consultation - prenatal

A 
Mother 35 or older
Abnormal screening test
Family hx
Exposure to teratogen
Mother has medical condition
3 or more losses
Consanguinity 
Ethnic predisposition
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10
Q

What happens during a genetics consultation

A

Assessmnet of family med hx, information, and social support
Family med hx
Physical exam
Diagnosis based on physical exam or offer testing

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11
Q

Beighton score

A

Test for hypermobility (5/9) - common in many genetic conditions

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12
Q

Uses of genetic testing

A 
Diagnostic
Presymptomatic 
Predictive/Predisposition
Carrier
Prenatal/Preimplantation 
Screening
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13
Q

Diagnostic tests are used to

A

make or confirm the diagnosis of a genetic disease

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14
Q

Predisposition tests

A

Tests for genes that predispose toward developing a particular disorder
Not everyone with the gene develops the disease
Ex: CA

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15
Q

Presymptomatic testing

A

Used to test for a genetic disease before the onset of symptoms
Everyone with the gene will develop the disease if they live long enough
Ex: Huntington, ALS

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16
Q

Carrier testing

A

Detect unaffected carriers of a single gene for a recessive disease or chromosome abnormality
Carriers do not have the disease but may be at risk to have an affected child if partner is also a carrier
Ex: CF, mm dystrophy

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17
Q

Prenatal tests

A

Used to detect genetic disorders in the fetus before birth

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18
Q

Preimplantation genetic diagnosis

A

In vitro fertilization

Embryonic cells removed at 8 cell stage

19
Q

Preimplantation genetic diagnosis - can be tested for

A

Chromosome abnormalities

Single gene disorders as indicated by family history

20
Q

Screening tests

A

Used to screen the general population for the possibility of genetic disease

21
Q

Newborn screening includes

A 
Sickle cell
PKU
Galactosemia
Maple syrup urine
Homocystinuria
Biotinidase deficiency
Congenital adrenal hyperplasia
Hypothyroidism
CF
22
Q

Prenatal screening

A

US screening for fetal abnormalities
Maternal serum screening for neural tube defects and DS
Free fetal DNA from maternal blood

23
Q

Three kinds of genetic tests

A

Cytogenetic
DNA
Metabolic

24
Q

Microarray tests

A

Look for sub microscopic duplications or deletions of genetic material
Do not detect changes in genetic code
May detect changes of unknown significance
Looking at the blocks in town example

25
Q

Modes of inheritance

A 
Autosomal dominant
Autosomal recessive
X linked
Multifactorial/Epigenetic
Chromosomal 
Contigous gene
26
Q

Autosomal dominant

A

If a parent has the condition the child has a 50% chance of getting it

27
Q

Autosomal dominant - penetrance, expressivity, onset

A

Reduced penetrance (may skip a generation)
Variable expressivity
Late onset

28
Q

Trinucleotide repeat disorders - caused by

A

Slippage of the DNA polymerase during replication

Ex: Huntington, fragile x mm dystrophy

29
Q

Autosomal recessive inheritance

A

Both parents are carriers, 25% chance child will show disease

30
Q

X linked are more likely to occur

A

More likely with one sex over the other

31
Q

Multifactorial inheritance

A

Environmental trigger needed to express the mutation

32
Q

Contiguous gene syndromes

A

Involve deletion or duplication of several genes

Found to be the cause of several syndromes with overlapping features

33
Q

Imprinting

A

Genetic defects due to not receiving a copy of a gene from a particular parent

34
Q

Imprinting may be due to

A

Depletion in the chromosome received from that parent

OR from uniparental disomy (getting both copies of a chromosome from the same parent)

35
Q

Mitochondrial inheritance

A

Disorders caused by genes in the mitochondria
Mitochondria packaged into tail of sperm and lost at time of fertilization so always passed through female
Males or females can be affected

36
Q

Reproductive options

A 
Chance
Prenatal diagnosis
Preimplantation genetic diagnosis
Sperm/egg donation
Adoption
Sperm sorting for x linked disorders
37
Q

How is genetic testing helpful

A

Reduces morbidity and mortality through close surveillance of high risk individuals
Eliminates need for extra surveillance
Allows for targeted care specific to disorder
Provides risk info

38
Q

Can genetic testing be harmful

A

Psychological impact of knowing
Possible insurance discrimination
Family discord because other family members are at risk

39
Q

CRISPR/Cas9

A

Enzyme that is bacterial based that has the possibility of changing a genome
Would lead to changing genetic makeup as a way to cure disease

40
Q

Case example - Referral for tall structure and pectus excavatum - tall with long arms and long fingers - MH lens dislocation

A

Marfans syndrome

Autosomal dominant

41
Q

Case example - Marfans syndrome - PT implication

A 
Need exercise but can't do contact sports
30-50% reduction in oxygen uptake
Prone to CV complications
Back pain from kyphosis 
Joint laxity
42
Q

Case example - Referral for joint laxity and a lot of dislocations, velvety, stretchy skin, wide scars, 9/9 on Beighton

A

Ehlers Danlos Syndrome
Different types - she has hypermobility type
Typical autosomal dominant

43
Q

Case example - Ehlers - PT implication

A 
Managing joint pain
Cardiac monitoring 
They have a lot of disability 
Might have hypotonia
Non weight bearing strengthening
Posture
Stabilization

Semester 5 PMNM Exam 9 (6 decks)

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