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Genetic Testing


The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins operates a Cancer Risk Assessment Program. The program is composed of three clinics: the Breast and Ovarian Surveillance Service, the Colon Cancer Risk Assessment Service, and the Familial Cancer Service. The Familial Cancer Service is available to address familial forms of cancer and concerns not related to breast, ovarian, or colon cancer. The multidisciplinary consultation service provides genetic counseling and risk assessment to cancer patients, their families, and high-risk individuals. The Cancer Risk Assessment team includes individuals trained in oncology, gastroenterology, genetics, epidemiology, genetic counseling, psychology, and nursing.


Baltimore, Maryland

Director, Cancer Risk Assessment Program

Constance Griffin, MD

Director, Breast and Ovarian Surveillance Service

Deborah Armstrong, MD

Director, Colon Cancer Risk Assessment Clinic

Francis Giardiello, MD

Director, Familial Cancer Service

Constance Griffin, MD

Schedule Appointments

Breast & Ovarian Surveillance

Colon Cancer Center

Familial Cancer Service

The Sidney Kimmel Oncology Center provides a full range of genetic counseling, testing, screening, and research. The following sets out the components of the comprehensive genetic testing program:

Intake Process

Physician Awareness

The Colon Cancer Center hosts a multidisciplinary colorectal cancer conference to enhance communication between academic and community physicians and establish consensus on patient treatment plans. A weekly high-risk genetics conference is also held, focusing on continuing education for cancer genetics faculty and staff, as well as protocols, guidelines and recommendations for patients with possible genetic predisposition for cancer. Lectures are provided to fellows focusing on the importance of cancer genetics in their practice.

Continuing Medical Education credits are available to community physicians and nurses through a variety of courses, including ones sponsored by the Colon Cancer Center and the Mid-Atlantic Cancer Genetics Network.

Patient Education

Original booklets describing the various forms of inherited colon cancer have been developed and are available for patient education. Copies of these booklets can be obtained by calling 888.77.COLON or through the hereditary colon cancer website: www.hopkins-coloncancer.org.

Additional written educational materials about the genetics of cancer are available on the Sidney Kimmel Oncology website at Johns Hopkins website, www.hopkinskimmelcancercenter.org and the Mid-Atlantic Cancer Genetics Network, www.macgn.org.


Patients are referred from both physicians within the Hopkins system as well as community physicians in many disciplines, including oncology, surgery, gynecology, internal medicine, and gastroenterology. The Appointment and Referral Office number is

Identifying Eligible Subjects

Individuals that may benefit from a referral include those with:

· Multiple primary cancers or bilateral cancer

· Cancer with an unusually young age of onset

· A clustering of rare or unusual cancers in the family

· A personal or family history of any known cancer susceptibility syndrome, such as:

o Hereditary Nonpolyposis Colorectal Cancer

o Familial Adenomatous Polyposis

o Hereditary Breast-Ovarian Cancer Syndrome

o Li-Fraumeni Syndrome

o Von Hippel-Lindau Syndrome

o Multiple Endocrine Neoplasia

· Two or more relatives on the same side of the family affected with the same type of cancer

· A family member with an identified cancer gene mutation

Pre-test Counseling and Risk Assessment

Questionnaires detailing the patient's personal and family medical history are sent at the time of scheduling and are asked to be returned prior to their scheduled appointment for the most accurate consultation. A consultation with the Cancer Risk Assessment Service includes:

· a detailed analysis and evaluation of the family medical history;

· a discussion of the genetics of cancer development and specific hereditary cancer syndromes;

· an assessment of the patient's cancer risk based on their family and/or personal history of cancer;

· recommendations for screening, prevention, and detection.

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

A medical evaluation and physical examination is optional. In the Breast and Ovarian Surveillance Service (BOSS), some patients also receive instructions for breast self-exam.

A letter summarizing the details of the consultation and recommendations is sent to the patients for their records. A copy of the consultation note will also be sent to the patient's physician, at their request.

Informed Consent Procedures

Patients that elect to proceed with genetic testing for cancer susceptibility will be required to sign a consent form either designed specifically by the laboratory performing the testing or a Johns Hopkins-approved consent form.


Confidentiality Standards

Documentation of the issues discussed during a patient's consultation, as well as the patient's family history, will be placed in the hospital's main medical record for those individuals seen in all three clinics. The record is maintained in both computerized and paper chart format.

If genetic testing is elected, for patients seen in the Colon Cancer Risk Assessment Clinic or Familial Cancer Service, the results of testing will also be documented in the main records.

For those patients that are seen in the Breast and Ovarian Surveillance Service and elect testing, the results of their genetic tests will be kept in a separate and confidential file.

Genetic testing results and documentation of a consultation will be disclosed to a third party only with the written consent of the patient.


For those patients electing genetic testing for cancer susceptibilities, in most cases the sample is sent for testing to a licensed commercial laboratory. Genetic testing for the APC I1307K mutation, a mutation in the APC gene found in individuals of Ashkenazi Jewish decent that predisposes to colon cancer, is performed in a CLIA approved lab at The Johns Hopkins University.

Available Testing at or through the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2

Cowden Syndrome PTEN

Familial Adenomatous Polyposis APC

Hereditary Nonpolyposis Colorectal Cancer MLH1 & MSH2

Familial Colon Cancer in the Ashkenazi
Jewish Population APC I1307K

Li-Fraumeni Syndrome p53

Familial Melanoma p16

Multiple Endocrine Neoplasias RET

Peutz-Jeghers Syndrome STK-11

Retinoblastoma RB1

von Hippel-Lindau VHL

Laboratory Quality Assurance

CAP/CLIA accreditation is current at the Sidney Kimmel testing laboratories.

Test Result Interpretation

The test result is interpreted by the physician and genetic counselor involved with the patient's consultation. The result is interpreted based on the findings of the laboratory, published information about the mutation and condition, and the patient's personal and family history.

Post-Test Counseling and Follow-Up

Post-test Counseling

The results of genetic testing are shared with the patient in person during a follow-up disclosure session, or over the telephone, depending upon the specific situation. Information about the implications of the results and recommended screening and follow-up is discussed.

Cancer Screening

Recommendations for early detection and prevention of cancer are provided. Recommendations are based on a combination of evidence and empiric data, expert opinion, and consensus statements, and take into account the patient's personal and family history. Specific screening protocols have been devised for certain cancer susceptibility syndromes.

Medical and Surgical Management

Patients may be referred to the Colon Cancer Center or the Breast Center at the Sidney Kimmel Comprehensive Cancer Center, where they are offered state-of-the-art treatment options, including the opportunity to enroll in a clinical trial, if eligible. For those patients traveling a distance for counseling and risk assessment, arrangements can be made for medical and surgical management in their local areas.

Psychological and Supportive Services

A clinical psychologist is available as part of our multidisciplinary team through a referral. Support group information is available in some situations. Social worker support is also available through the cancer center.


Identifying New Genes

A number of colon cancer susceptibility genes have been discovered at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, including the APC gene which predisposes to Familial Adenomatous Polyposis; the MSH2, MLH1, PMS1, and PMS2 genes, all of which are associated with Hereditary Nonpolyposis Colorectal Cancer; and the APC I1307K mutation, which is found most commonly in the Ashkenazi Jewish population and increases the risk of colon cancer. Studies are underway to identify additional genetic factors associated with colon cancer development using families enrolled in our Hereditary Colorectal Cancer Registry.

In addition, the Sidney Kimmel Comprehensive Cancer Center investigators also recently discovered linkage of a possible familial prostate cancer gene to chromosome 1. Additional work is being done to isolate and characterize this and other potential genes.

Families with familial pancreatic cancer are being studied to help researchers and clinicians understand the genetic basis of this disease. Previously, Hopkins investigators characterized germline mutations of the p16 and BRCA2 gene in pancreatic cancer.

Genetic linkage studies for potential cancer susceptibility genes that predispose to lung cancer development are also active.

Improving Counseling Methods

Sidney Kimmel Comprehensive Cancer Center researchers conducted a nationwide survey of physicians and genetic counselors concerning the adequacy of counseling given to patients tested for a gene linked with colon cancer.

Investigators are currently developing, implementing, and evaluating a model informed consent process that integrates the perceptions of consumers and providers in relation to BRCA1 testing.

A study was also completed that contributed empirical data concerning the values, beliefs, and experiences of persons with genetic conditions (including hereditary colon cancer) regarding informational privacy and access to health insurance.

Researchers are also currently investigating the efficacy of in-person versus telephone genetic counseling and disclosure methods.

Improving Testing Methods

Sidney Kimmel Comprehensive Cancer Center researchers developed a testing methodology (protein truncation testing) that identifies genetic mutations in the APC gene and provides an opportunity to use genetic testing in families with Familial Adenomatous Polyposis (a form of inherited colon cancer).

Investigators are also looking at factors that influence physicians' adoption of new genetic tests and their attitudes toward how tests should be provided.

Implementing Chemoprevention Trials

A randomized trial of individuals at risk for Familial Adenomatous Polyposis who have tested positive for an APC gene mutation is underway to evaluate the efficacy of Sulindac in preventing the development of colon polyps.

Discovering Clinical Treatments for Genetic Disorders

Sidney Kimmel Comprehensive Cancer Center researchers identified hundreds of genes that were overexpressed in pancreas cancer using a novel technique called SAGE. These overexpressed genes may be used to develop new blood markers that are increased in pancreatic cancer patients and may lead to a test that will aid in the earlier detection of pancreatic cancer. Similar analysis was also performed in colon cancer.

Tracking Long-Term Results of Prophylactic Surgeries, Medical Surveillance Choices, and Preventative Interventions

A studying tracking women who have undergone prophylactic mastectomies is currently underway.

Additional research into the preventative interventions and surveillance choices of patients is being planned through the Mid-Atlantic Cancer Genetics Network. The Mid-Atlantic Cancer Genetics Network is currently evaluating methods of ovarian surveillance, as well as the efficacy of breast MRI.

Investigators are also evaluating the use of ductal lavage for breast cancer screening.

Participating in Familial Registries or National Registries

A number of familial registries are available at the Johns Hopkins Kimmel Cancer Center:

Hereditary Colorectal Cancer Registry: In existence since 1973, this registry includes families with multiple cases of colon cancer or a known inherited form of colon cancer. The registry accumulates medical and family records, extensive family pedigrees, and is continuously accruing new families. Registry participants are often eligible for research projects at Hopkins.

Prostate Cancer Family Registry: Contains families who meet the criteria of three or more first-degree relatives with prostate cancer or two affected first-degree relatives with prostate cancer under the age of 55. Cells for DNA may be archived on selected individuals.

The Lung Cancer Family Registry: Established to characterize genetic susceptibility factors in lung cancer and serve as an educational resource for registry participants. Lifestyle, smoking, clinical histories, and blood samples may be collected. Information is available on their webpage, www.path.jhu.edu/nfltr.html.

National Familial Pancreas Tumor Registry: Established to document the presence of familial forms of pancreatic cancer and to evaluate affected families to gain a better understanding of the genetic basis of cancer of the pancreas. Information about the registry is available on their website, www.path.jhu.edu/pancreas.

The Mid-Atlantic Cancer Genetics Network: A nationally based registry through the National Cancer Institute that includes individuals and families with all types of cancer. The Mid-Atlantic Cancer Genetics Network cooperates with seven other sites across the United States . Information is available on their website, www.macgn.org.

Studying Impact of Receiving Genetic Information on Health-Related Outcomes

A longitudinal study of baseline and follow-up psychological factors is currently being conducted to investigate the cancer prevention behavioral consequences of gene testing for Hereditary Nonpolyposis Colorectal Cancer.

Other Components of Genetic Services

Quality Assurance

Our genetic counselors are certified through either the American Board of Genetic Counselors or the American Board of Medical Genetics.

Programmatic counseling protocols are established and are intermittently reviewed.

Clinic cases are reviewed at weekly conferences to ensure consensus among experts.


Significant educational efforts at the Sidney Kimmel Comprehensive Cancer Center are directed to fellows and community physicians. The fellowship course, seminar, and conference structure include information about cancer genetics and related topics.

Johns Hopkins University and the National Human Genome Research Institute of the NIH have a joint genetic counseling training program. The option of participating in supervised clinical rotations in the Cancer Risk Assessment Services, using an established curriculum, is available to students.

The Bloomberg School of Nursing at Johns Hopkins offers nursing classes on cancer genetics and genetic testing and counseling in the Oncology Nursing specialty track.

The School of Public Health at Johns Hopkins offers a program in genetic epidemiology and a training grant in cancer epidemiology in the Department of Epidemiology.