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CF Genetic
Counseling:
Beyond 1 in 4
This Web cast is supported by an unrestricted
educational grant from Genentech, Inc.
CF Genetic
Counseling:
Beyond 1 in 4
Elinor Langfelder Schwind, M.S.
Beth Israel Medical Center, NY
Christina Zaleski, M.S.
Marshfield Clinic, WI
Genetic Counseling
. . . the process of helping people understand
and adapt to the medical, psychological and
familial implications of genetic contributions to
disease. (NSGC 2005)
www.nsgc.org
Copyright permission from www.cclbooks.com
Affected Child
Recessive Inheritance
Father Mother
Unaffected Carrier Carrier
NN Nn
nN nn
Fath
er’
s C
F
gen
es
Mother’s CF
genes LEGEND
N: normal (working) gene
n: non-working (mutated) gene
NN: unaffected, not a carrier
Nn: unaffected, carrier
nN
nn: affected
n
N n
N
CF Genetic
Counseling:
Beyond 1 in 4
Elinor Langfelder Schwind, M.S.
Beth Israel Medical Center, NY
Christina Zaleski, M.S.
Marshfield Clinic, WI
Non CF
CFTR CFTR
CF Carrier
SALT SALT
CF
SALT
CFTR
• Disease-Causing Mutation - A difference
in the genetic code that leads to an
abnormal protein
• Variant - A DNA code that is different from
what is considered the normal or 'wild type'
code
• May or may not affect how the protein
is made or how it functions.
• Polymorphism - A common variant (1%)
Presentation Title
• Benign Variant - Change in the DNA code
that has been studied and does not cause
disease
• Novel Variant - Change in the DNA code
that has never been seen before in healthy
or affected individuals
• “Unclear” significance
Presentation Title
April 24, 2012 Presentation Title
www.nsgc.org
Role of Genetic Testing:
• Confirm Diagnosis
• For Research
• For Reproductive
Planning
• Carrier testing for
relatives
April 24, 2012 Presentation Title
Recessive Inheritance
Father Mother with CF
Carrier Carrier Carrier Carrier
Recessive Inheritance
Affected Child Affected Child
Father Carrier
Carrier
Mother with CF
Carrier
CF Genetic
Counseling:
Beyond 1 in 4
Elinor Langfelder Schwind, M.S.
Beth Israel Medical Center, NY
Christina Zaleski, M.S.
Marshfield Clinic, WI
• …for watching
• Elinor Langfelder-Schwind and Christina Zaleski
• Rick Vasta and the technical crew
• Melissa Chin
• The CF Foundation
• Genentech