Download DHMC - NCCC Familial Cancer Program

DHMC - NCCC
Familial Cancer Program
• Bradley A. Arrick, MD, PhD, Medical Oncologist,
Co-Director of Familial Cancer Program
• John Moeschler, MD, Clinical Geneticist, CoDirector of Familial Cancer Program
• Kasia Bloch, MS, Certified Genetic Counselor
• Laurie Wallace, Program Assistant
• Leslie DeMars, MD, Gynecologic Oncologist
• Tim Ahles, PhD, Clinical Psychologist
• 650-5415
Familial Cancer Program at DHMC
What can your
patients expect?
Before the appointment
• Patient:
– Personal medical history
– Family history
– Medical records on affected individuals
(if available)
Before the appointment conti.
• Genetic Counselor
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Clarify family history
Obtain medical records to confirm the diagnosis
Differential diagnosis
Cancer risk assessment
Gene risk assessment
Clinical or research testing information
Support information
Case 1
German/Polish
d. 70
Breast Ca, dx 41
62
English/Irish
Breast Ca, dx 49
d. 52
67
35
d. 80
65
30
d. 85
55 Diabetes, dx 45
59
52
At the appointment
• Educate regarding the basics of cancer
genetics and probability
• Describe condition in question
• Discuss risk assessment models and their
results
• Offer genetic testing if appropriate
When genetic testing is an
option!
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Possible test results and implications
Accuracy and limitations of testing
Potential risks and benefits of testing
Possible emotional reactions
Case 1
German/Polish
d. 70
Breast Ca, dx 41
62
English/Irish
Breast Ca, dx 49
d. 52
67
35
d. 80
65
30
d. 85
55 Diabetes, dx 45
59
52
The final goal is informed
consent
Summary of common reasons for genetic
cancer risk assessment consultation:
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•
Several relatives with same or related cancers
Younger age of onset than is typical
AD pattern of cancer
Presence of rare cancers
Excess of multifocal or bilateral cancers
Excess of multiple primary cancers
Presence of other nonmalignant features
Absence of environmental risk factors
Know the genetics providers in
your community and use them!
• General Genetics - both pediatric and
adult onset conditions
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John Moeschler, MD, Clinical Geneticist
Mary Beth Dinulos, MD, Clinical Geneticist
Sue Berg, MS, Certified Genetic Counselor
Sheila Upton, MCG, Certified Genetic Counselor
Kasia Bloch, MS, Certified Genetic Counselor
• 650-7886
Common reasons for a pediatric/adult
genetics consultation:
 Abnormal newborn screening results
 One or more major malformations in any organ
system
 Abnormalities in growth
 Mental retardation or developmental delay
 Blindness or deafness
Common reasons for a pediatric/adult
genetics consultation conti.
 Development of a degenerative disease
 Risk assessment for pregnancy planning
 Presence of a known or suspected genetic
disorder or chromosomal abnormality
 Family history of a known or suspected genetic
disorder, birth defect, or chromosomal
abnormality
• Preconception/Prenatal Counseling
• Serenedy Smith-Baelz, MS, Certified Genetic
Counselor
• Valerie Hani-LaCroix, MS, Certified Genetic
Counselor
• Michele Branch, MS, Certified Genetic Counselor
• Sheila Upton, MS, Certified Genetic Counselor
• 650-8147
Common reasons for a
preconception/prenatal genetics
consultation:
 Mother will be 35 years or older at delivery
 Abnormal results from a triple marker screen or
fetal ultrasound
 Personal or family history of a known or
suspected genetic disorder, birth defect, or
chromosomal abnormality
 Exposure to a known or suspected teratogen
Common reasons for a
preconception/prenatal genetics
consultation conti.
 Mother has a medical condition known or
suspected to affect fetal development
 Two or more pregnancy losses
 Close biological relationship of parents
 Ethnic predisposition to certain genetic disorders