Identifying and Treating Patients with Or at High Risk of ...
Identifying and Treating Patients
with Or at High Risk of Hereditary
Cancer Using a Comprehensive
Toolkit
Victoria Chaudhary,
DNPc, MSN, RN, CNL
University of San Francisco
Disclosure
This presentation is for educational purposes only.
2. This toolkit will not be sold to anyone.
3. This presentation does not intend to promote any particular services but instead
to be used as a tool.
4. The presenter does not have any relevant nonfinancial relationships to disclose.
1.
Objectives
After attending the session, participants will be able to
1.
2.
3.
4.
5.
Verbalize how to identify patients at risk for hereditary cancers.
Identify a role of a primary care provider in genetics.
Identify at least one screening tool that can be used in an outpatient office visit.
Verbalize at least three ethical, social, and legal considerations related to genetic
testing.
Discuss two ways to change practice when providing care to patients in need of
genetic services.
Agenda
Genetics and Cancer
Gap, need, solution, and role for outpatient community providers.
Ethical Considerations for genetic testing
Family History Taking and Barriers
Billing and Cost
Most common gene mutations
Family History Assessment Tools
Risk Calculation for Breast Cancer and Recommendations
Genetic Counseling
Hereditary Breast and Ovarian Cancer and Lynch syndrome: Red flags, when
to test, management/surveillance/ recommendations
? Case Studies
? Tools and Resources
? Questions
?
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?
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?
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?
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Genetic Terminology
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?
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Genetics vs Genomics
Autosomal: inheritance pattern with the gene located on a non sex chromosome.
Autosomal dominant: a mutated gene passed on through inheritance. Only one gene is needed for an
individual to be affected by this type of disorder.
Autosomal recessive: a mutated gene passed on through inheritance. Two copies are needed to be
affected by this type of disorder.
De novo mutation: gene alteration identified for the first time in one family member resulting from a
mutation in a germ cell (the egg or sperm) of one of the parents or in the fertilized egg during early
embryogenesis.
Genome- a whole set of DNA
Exome: portion of the genome that encodes proteins and functional RNAs (approx 1-2% of genome)
which is thought to be functionally relevant.
Genotype vs Phenotype
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