DHMC - NCCC Familial Cancer Program Bradley A. Arrick, MD, PhD, Medical Oncologist, Co-Director of Familial Cancer Program John Moeschler, MD, Clinical Geneticist, Co- Director of Familial Cancer Program Kasia Bloch, MS, Certified Genetic Counselor Laurie Wallace, Program Assistant Leslie DeMars, MD, Gynecologic Oncologist Tim Ahles, PhD, Clinical Psychologist

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 –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 Breast Ca, dx German/PolishEnglish/Irish Breast Ca, dx 49 d. 52 d Diabetes, dx d. 70 d. 85

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! Possible test results and implications Accuracy and limitations of testing Potential risks and benefits of testing Possible emotional reactions

Case 1 Breast Ca, dx German/PolishEnglish/Irish Breast Ca, dx 49 d. 52 d Diabetes, dx d. 70 d. 85

The final goal is informed consent

Summary of common reasons for genetic cancer risk assessment consultation: 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 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

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

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