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Genetic Counseling and Testing Service


The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute has a Clinical Cancer Genetics Program (CCGP) dedicated solely to the study of human cancer genetics. The (CCGP) is part of the Division of Human Genetics in the Department of Internal Medicine and provides services through the Cancer Genetics Clinic and through participation in multidisciplinary programs such as the High Risk Breast Program and the Neuroendocrine Clinic. These programs provide comprehensive services, including genetics, for individuals with cancer and coronary heart disease, and their families. The focus is on pre-symptomatic risk assessment, management options, education of patients and professionals, genetic testing, and access to appropriate research protocols. Multidisciplinary teams staff the clinics and include physicians who are board-certified in clinical genetics and surgery, as well as board-certified genetic counselors with extensive experience in cancer and medical genetics.


Columbus, Ohio

Director, Clinical Cancer Genetics Program

Albert de la Chapelle, MD, PhD

Director, Division of Human Genetics

Albert de la Chapelle, MD, PhD

Schedule Appointment


The James 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

CCGP staff offer continuing medical education for academic and community physicians, nurses and medical center staff. Each year, about 50 interactive programs and lectures are offered on topics such as family cancer syndromes, cancer risk, prevention, early detection, follow-up care, pre-symptomatic genetic testing and ethical issues. In addition, other medical genetics topics are offered by special request.

Patient Education

Patients receive individualized education from a genetic counselor, clinical cancer geneticist or geneticist with experience in cancer genetics. They discuss basic genetic concepts, the relationship between genes and cancer, risk assessment strategies for personal cancer risk and cancer susceptibility syndromes, and pre-symptomatic genetic testing.

Identify Eligible Subjects/Referral

Individual and family member records are obtained to verify medical histories prior to counseling. Pedigrees are constructed using the Progeny® pedigree and database program.

Individuals with family histories consistent with familial cancer syndromes such as hereditary breast-ovarian cancer syndrome, familial adenomatous polyposis, Lynch syndrome (HNPCC), familial colorectal cancer in Jewish individuals, multiple endocrine neoplasia types 1 and 2, neurofibromatosis types 1 and 2, von Hippel-Lindau syndrome, retinoblastoma, hereditary Wilms' tumor, and others are initially evaluated with the assistance of the CCGP.

Appropriate referrals are made to multidisciplinary clinics such as the High Risk Breast Program and Neuroendocrine Clinic for long-term follow-up and management. In-depth counseling is provided about confidentiality, psychosocial, legal, and financial issues at the same time the individual is informed of his or her susceptibility risks.

Some at-risk individuals may be identified through direct referral to the multidisciplinary clinics. If appropriate, the individuals are seen subsequently in the CCGP Clinic for in-depth counseling.

Pre-test Counseling and Risk Assessment

Risk evaluation is accomplished using medical records received in the pre-counseling period and with information received from the patient at the time of the counseling session. Individuals are encouraged to consult family members and records while preparing for the session.

The individual meets with a genetic counselor and a clinical cancer geneticist or clinical geneticist who provide basic genetic concepts, the relationship between genes and cancer, and risk-assessment strategies for personal cancer and cancer susceptibility syndromes. The person's readiness to participate in pre-symptomatic testing is assessed. A counselor prepares the person psychologically for test results; discusses the potential risks, benefits and limitations of the testing; and provides information about the medical and genetic ramifications of positive, negative and indeterminate test results. Eligibility for genetic testing research protocols is discussed. In-depth counseling is provided about confidentiality, psychosocial, legal and financial issues.

Risk-reducing surgical options are discussed. Management options are discussed for other at-risk family members, including appropriate options for children and adolescents in the case of FAP or MEN syndromes.

Informed Consent Procedures

Written informed consent is required prior to any specimen acquisition for any gene testing. Institutional Review Board informed consent procedures are followed for research protocols. An informed consent document for reference laboratory is used for commercially available tests.

All informed consent documents indicate that the individual is informed of the purpose and type of genetic test to be performed, potential risks, benefits and limitations of genetic testing, confidentiality issues and fees involved in testing.


Confidentiality Standards

Physical examination findings are recorded as part of the medical record. Notation is made that a genetic counseling session has occurred and that a secure chart is available in the Clinical Cancer Genetics office. Release of CCGP records requires a specific, current, signed consent from the individual.

A detailed letter documenting the patient's family history, counseling issues and genetic testing results are located in CCGP records. No results of genetic testing are posted on the computer-based medical record.


Genetic testing may be performed at The Ohio State University Medical Center Molecular Pathology Laboratory or at a licensed commercial laboratory. These laboratories meet the College of American Pathology (CAP) and Clinical Laboratory Improvement Act (CLIA) of 1988 standards and are accredited.

Examples of Available Testing at or through The James

Cancer/Syndrome Gene

Hereditary Breast/Ovarian BRCA1 & BRCA2

Cowden syndrome/BRR PTEN


Gorlin syndrome PTC

Familial Jewish Colon Cancer APC I1307K mutation

Familial Melanoma p16

Lynch syndrome (HNPCC) MLH1, MSH2, MSH6, PMS2

Juvenile Polyposis BMPR1A, SMAD4

Li-Fraumeni syndrome TP53


Neurofibromatosis types 1&2 NF1, NF2

Peutz-Jeghers syndrome STK11/LKB1

Retinoblastoma RB1

von Hippel-Lindau VHL

Laboratory Quality Assurance

CAP/CLIA accreditation is current at all Ohio State University laboratories. The director of the Molecular Pathology Laboratory is certified in molecular genetics by the American Board of Medical Genetics.

Test Result Interpretation

Laboratory personnel provide a written report to the physician, who interprets all genetic testing results in light of the individual's personal and family history, the published literature and database repositories of mutations. The risk conveyed by a specific mutation is estimated based on all available data for each individual.

Post-Test Counseling and Follow-Up

The Clinical Cancer Genetics Program at The James Cancer Hospital and Solove Research Institute serves as a liaison between patients/families and basic researchers. The program is involved in genetic research and encourages individuals and families to participate in the following types of research:

Gene Studies

Papillary Thyroid Cancer
Families in which multiple individuals are affected with papillary thyroid cancer are eligible for a research study attempting to identify genes involved in the tumorigenesis of this cancer. Patients also diagnosed with precursor thyroid lesions at The James and the University of Pennsylvania are eligible.

Lynch syndrome (Hereditary Non-Polyposis Colon Cancer)
Studies of a consecutive series of colon and endometrial cancers are being performed to determine the proportion due to hereditary non-polyposis colorectal cancer syndrome.

Spielman Breast Cancer tumor bank

This is for storage of genetic material from a consecutive series of breast cancer patients and their tumors for future research studies. The first 1,500 patients also received PTEN gene testing to determine the proportion due to Cowden syndrome.

Modifier study

Individuals with BRCA1 or BRCA2 gene mutations causative of Hereditary Breast-Ovarian cancer syndrome are eligible for this study, which aims to identify genes that modify the risks for cancer among this high-risk cohort.

Other Cancer Gene-Related Studies

Amish Population Study
This population study looks at cancer incidence among the Holmes County, Ohio, Amish.

Prospective Cohort BRCA Study
This prospective questionnaire-based study is offered to all female patients who test positive for BRCA mutations to identify hormonal, reproductive and lifestyle factors that are associated with the risk of developing breast and ovarian cancer. A second study, to include male BRCA carriers, is in process.

Improving Counseling Methods

The CCGP has developed Family HealthLink, an online, personalized, cancer and coronary heart disease risk assessment tool that estimates risk by reviewing patterns in a family. Family HealthLink is available on The JamesLine Web site at We will improve access to CCGP counseling services by informing the appropriate individuals of their risk for hereditary cancer predisposition syndromes and recommending genetic counseling.

Participating in Familial Registries or National Registries

The CCGP is also in the consortium of centers participating in the Prospective BRCA Study centered in Toronto and a member of CIMBA (Consortium of Investigators of Modifiers of BRCA1/2). The CCGP also works closely with the Colon Cancer Family Registry.

Studying Impact of Receiving Genetic Information on Health-Related Outcomes

A research study is ongoing to assess patient compliance with cancer surveillance and genetic counseling recommendations provided in a risk-notification letter sent to patients using Family HealthLink. The letter is tailored to the patient in an attempt to increase compliance.

Other Components of Genetic Services

Quality Assurance

A weekly CCGP case conference reviews each individual's case. Each counseling letter is reviewed prior to release.


The Clinical Cancer Genetics Program participates as a clinical site for the training of genetic counselors.


The Ohio Cancer Genetics Network, founded in 2006 by the Ohio Department of Health, aims to improve statewide collaboration in cancer epidemiology, management and counseling of clinical cancer genetics patients as well as research. To this end, databases at collaborating institutions are being made compatible with each other.