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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 – – – – – – – 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! • • • • 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: • • • • • • • • 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 • 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