National Comprehensive Cancer Network

Seattle, Washington

Gail Jarvik, MD, PhD

Robin Bennett, MS, CGC

Gail Jarvik, MD, PhD

Marshall S. Horwitz, MD, PhD

Wylie Burke, MD, PhD

Wendy Raskind, MD, PhD

Robert Hershberg, MD

Robin Bennett, MS, CGC

Corrine Smith, MS, CGC

Mercy Laurino, MS

Angela Jacobsen, MS, CGC

206.598.4030

The genetic counselors and medical geneticists of the Cancer Genetics Clinic give education seminars for health care professionals in the Puget Sound area. More information about the Cancer Genetics Clinic can be found at http://depts.washington.edu/medgen.

Although most cases of cancer are not due to inheritance of a cancer predisposition gene, certain features make an inherited cancer syndrome more likely:

· A person has more than one type of primary cancer

· A person has cancer at a younger age than usual

· Several close family members have cancer

· Rare or unusual cancers in a family (for example, a man with breast cancer or someone with cancer of the parathyroid gland).

Patients with concerns about their personal or family history of cancer are appropriate to refer. An appointment can be arranged by a health-care provider or by a patient by calling 206.598.4030.

Prior to the first visit, a personal and family history is taken by telephone. Reasonable attempts are made to confirm personal and family cancer history by reviewing medical records and obtaining death certificates.

The first visit to the clinic includes:

· A discussion of the patient's concerns, reason for referral, and perceived risk of cancer

· A brief and targeted physical exam, when appropriate

· An updated and detailed analysis and evaluation of the family medical history

· A discussion of whether the history is consistent with a known hereditary cancer syndrome

· An assessment of the patient's cancer risk based on their examination, family and/or personal history of cancer, and empiric data

· Recommendations for screening, prevention, and detection of cancer.

If a hereditary cancer syndrome is suspected in a family, the availability of genetic testing and the risks and benefits of such testing is discussed.

When genetic testing is indicated and a patient consents, a return visit is scheduled to discuss test results. An intervening visit may be needed for the blood draw, if insurance preauthorization is required prior to testing.

Informed consent involves discussion of risks, benefits, and options of genetic testing. Patients who elect to proceed with genetic testing for cancer susceptibility sign a consent form designed specifically by the laboratory performing the testing.

Documentation of the patient's consultation, copies of outside records reviewed, and the patient's family history are all submitted to the University of Washington Medical Center's main medical record. A copy of the consultation is also sent to the referring health-care provider. If genetic testing is done, the results of testing are documented in the main record and the referring health-care provider is notified. In compliance with the Health Information Portability and Accountability Act (HIPAA), genetic testing results and documentation of a consultation will be disclosed to a third party only with the written consent of the patient. Such records are available only through the University of Washington Medical Center Medical Records office.

For those patients electing clinical testing for cancer predisposition genes, samples are only sent to licensed commercial laboratories that have been CLIA approved.

Hereditary Breast and Ovarian Cancer Syndrome

Familial Adenomatous Polyposis

Hereditary Non-polyposis Cancer Syndrome (Lynch Syndrome)

MYH-Associated Polyposis

Li-Fraumeni

von Hippel-Lindau

Neurofibromatosis 1

Neurofibromatosis 2

Multiple Endocrine Neoplasias

Familial Medullary Thyroid Cancer

Retinoblastoma

Cowden Syndrome

Hereditary Diffuse Gastric Carcinoma

Juvenile Polyposis Syndrome

Peutz-Jeghers Syndrome

Familial Melanoma

Hereditary Paraganglioma

Hereditary Leiomyomatosis and Renel Cell Cancer

Nevoid Basal Cell Carcinoma

BRCA1, BRCA2

APC

MSH2, MLH1, MSH6, PMS2

MYH

p53

VHL

NF1

NF2

MEN1, MEN2, RET

RET

RB1

PTEN

E-cadherin/ODH1

SMAD4/BMPR1A

STK11

p16

SDHB, SDHD, SDHC

FH

PTCH

Results from genetic testing for cancer predisposition are almost always discussed with the patient in person at a return visit to the Cancer Genetics Clinic. Exceptions are made for extenuating circumstances. Results are interpreted by the physician geneticist and genetic counselor involved with the patient's consultation. Cancer risk is estimated based on the findings of the laboratory; published information about the mutation and condition, including that from database repositories; the patient's personal and family history; lifestyle factors; empiric data; and risk models such as the Claus and Gail models, when appropriate. Especially if genetic test results are abnormal, patients are strongly encouraged to share their test results with other at-risk family members. Patients are given a written summary of the importance of informing family members and a sample letter they can use to do this.

Results from genetics testing for cancer predisposition are preferably discussed with the patient in person at a return visit to the Cancer Genetics Clinic. Exceptions are made for extenuating circumstances. This visit includes a discussion of the test results, the implications of the test results for the patient's cancer risk, cancer risk to family members, pattern of inheritance when a genetic mutation is identified, and cancer risk management recommendations. A letter summarizing the details of the consultation and recommendations is sent to the patient for their records. Follow-up counseling is available as needed.

Individualized guidelines on cancer screening that are appropriate to the patient's level of risk are reviewed with the patient and communicated to the referring healthcare provider.

Patients at high risk for breast or ovarian cancer are referred to the Breast and Ovarian Cancer Prevention Program, housed at Seattle Cancer Care Alliance. In this setting, a multi-disciplinary team discusses a myriad of surveillance and treatment options, including the opportunity to enroll in clinical prevention studies, if eligible. Patients at high risk of developing other types of cancer are referred to appropriate specialists.

Referrals to therapists and support groups are made when appropriate.

Dr. Marshall Horwitz's laboratory employs genetic linkage analysis and positional candidate cloning approaches to map and identify genes responsible for familial predisposition to leukemia, lymphoma, and bone marrow failure syndromes.

Qualified patients are referred to the STAR trial.

Carcinogenesis - A long-term interest in Dr. Wendy Raskind's laboratory has been the study of the multistep development of human cancers, with an emphasis on the changes that take place early in carcinogenesis. Past investigations have contributed to our current understanding of the involvement of pluripotent stem cells in myelodysplastic disorders and some forms of leukemia.

The medical geneticists and genetic counselors are certified through either the American Board of Medical Genetics or the American Board of Genetic Counseling. Clinic cases are reviewed at weekly conferences to ensure consensus.

The staff of the Cancer Genetics Clinic consists of providers who are specially trained and have an interest in cancer genetics. The medical geneticists and genetic counselors regularly attend continuing education seminars and conferences. The Division of Medical Genetics hosts a weekly seminar series. Challenging cases are discussed at weekly case conferences.