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Genetic Testing

Introduction

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) has a Clinical Cancer Genetics Program (CCGP) dedicated to the study of human cancer genetics. As part of the Division of Human Genetics in the Department of Internal Medicine at Ohio State, the CCGP provides comprehensive risk assessments, cancer genetic counseling and clinical cancer genetic consultation to approximately 1,000 families each year. Most families are residents of Ohio, but patients also come from other states and countries.  

Faculty in the CCGP collaborate with other clinicians in the OSUCCC – James in cases that may have a genetic component. Further, the CCGP serves as the liaison between the patients and researchers of the Division of Human Genetics, assuring that appropriate clinical cancer genetics consultation is available to patients, and that Institutional Review Board (IRB)-approved protocols are in effect for cancer susceptibility gene testing, either in the clinical or research setting. Together with the Division of Human Genetics, the CCGP administers the germline tissue and DNA sample bank, which will eventually be linked to a comprehensive clinicopathologic database.

To refer a patient to the Clinical Cancer Genetics Program:
Call 614-293-6694 or toll free 888-329-1654
Fax 614-293-2314, ATTN: Genetics.

For more information, call 614-293-6694 to speak with a genetic counselor.

 

Location

Columbus, Ohio

Director, Division of Human Genetics

Ray Hershberger, MD

Schedule Appointment

614.293.6694

 

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. In addition, CCGP staff provide programs and lectures to patients on a variety of genetic counseling topics and related conditions.

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, these 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 (IRB)-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.

 

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 and via electronic medical record. 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.

Testing

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

FAP APC

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

MEN1 & MEN2 MEN1, RET

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 provider, 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

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 https://familyhealthlink.osumc.edu. 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. Additionally, the CCGP has implemented an upgrade to the Progeny® pedigree software that provides patients with secure online access to complete pedigrees, as opposed to completing paperwork in advance of an appointment.

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 is 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.

Training

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

Other

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.


Find a Clinical Trial


For cancer patients, clinical trials mean hope. Hope in a cancer-free world and in better, more targeted ways to prevent, detect, treat and cure individual cancers.

The OSUCCC – James has more than 500 open clinical trials at any given time, with some of the world’s latest discoveries available to clinical trial patients here in Columbus, Ohio. In fact, patients have access to more cancer clinical trials here than at nearly any other hospital in the region, as well as access to some of the most advanced, targeted treatments and drugs available.

The OSUCCC – James is one of only a  few comprehensive cancer centers funded by the National Cancer Institute (NCI) to conduct phase I and phase II clinical trials on anticancer agents sponsored by the NCI. These trials go only to centers that demonstrate an exemplary capacity for research and clinical care, the expertise to deliver the latest in treatments, and the infrastructure to interpret and track treatment results.

Additionally, Ohio State has more than 300 cancer researchers dedicated to understanding what makes each patient’s cancer grow, move, metastasize or recur. Because of the OSUCCC – James’ NCI phase I and II approvals, these experts can move research discoveries into clinical trials and make them available to patients sooner.

Find a clinical trial at the OSUCCC – James today.


Stories from Clinical Trial Patients

Click here to read first-person accounts from OSUCCC – James clinical trial patients who wished to share their journey in the hope that they may provide future and current patients with additional hope, strength and a deeper understanding of the overall cancer journey. 


What Are Clinical Trials?

Clinical trials are research studies that involve people. They are the final step in a long process that begins with research in a lab, in some cases here at Ohio State. Most treatments in use today are the result of past clinical trials.

Cancer clinical trials are designed to test new ways to:
  • Treat cancer
  • Find and diagnose cancer
  • Prevent cancer
  • Manage symptoms of cancer or side effects from its treatment
Any time you or a loved one needs treatment for cancer, clinical trials are an option to think about. Trials are available for all stages of cancer. It is a myth that they are only for people who have advanced cancer that is not responding to treatment.

Every trial has a person in charge, usually a doctor, who is called the principal investigator. The principal investigator prepares a plan for the trial, called a protocol. The protocol explains what will be done during the trial. It also contains information that helps the doctor decide if this treatment is right for you. The protocol includes information about:
  • The reason for doing the trial
  • Who can join the trial (called “eligibility requirements”)
  • How many people are needed for the trial
  • Any drugs that will be given, how they will be given, the dose, and how often
  • What medical tests will be done and how often
  • What types of information will be collected about the people taking part


Why Are Clinical Trials Important?

Clinical trials are key to developing new methods to prevent, detect and treat cancer. It is through clinical trials that researchers can determine whether new treatments are safe and effective and work better than current treatments. When you take part in a clinical trial, you add to our knowledge about cancer and help improve cancer care.

(Source: National Cancer Institute)


Types of Clinical Trials

There are several types of cancer clinical trials, including treatment trials, prevention trials, screening trials, and supportive and palliative care trials. Each type of trial is designed to answer different research questions.

Treatment Trials

Most cancer clinical trials are treatment studies that involve people who have cancer. These trials test new treatments or new ways of using existing treatments, such as new drugs, vaccines, approaches to surgery or radiation therapy, or combinations of treatments.

Some treatment trials involve testing cancer cells for the presence of specific molecular markers. These markers can include changes in certain genes or proteins. These changes may help to further classify cancers and certain treatments may target them. So it is important to know whether they are present.

Treatment trials are designed to answer questions such as:
  • Which new treatment methods can help people who have cancer?
  • What is the most effective treatment for people who have cancer?
  • Does the new treatment work as well as the old treatment?
  • What are the new treatment’s side effects?
For information about taking part in treatment trials, see the booklet Taking Part in Cancer Treatment Research Studies.


Prevention Trials

Cancer prevention trials are studies involving healthy people. In most prevention trials, the participants either do not have cancer but are at high risk for developing the disease or have had cancer and are at high risk for developing a new cancer. These studies look at cancer risk and ways to reduce that risk.

There are two kinds of prevention trials: action studies and agent studies.


Action Studies

Action studies ("doing something") focus on finding out whether actions people take— uch as exercising more or eating more fruits and vegetables—can prevent cancer.


Agent Studies

Agent studies ("taking something") focus on finding out whether taking certain medicines, vitamins, minerals or dietary supplements (or a combination of them) may lower the risk of a certain type of cancer. Agent studies are also called chemoprevention studies.

Researchers who conduct these studies want to know:
  • How safe is it for a person to take this agent or do this activity?
  • Does the new approach prevent cancer?
For information about taking part in prevention trials, see the booklet If You Want to Find Ways to Prevent Cancer…Learn About Prevention Clinical Trials.

 

Screening Trials

Cancer screening trials test new ways to find disease early, when it may be more easily treated. An effective screening test will reduce the number of deaths from the cancer being screened.
Researchers who conduct cancer screening studies want to know:
  • Does finding disease earlier, before people have any symptoms, save lives?
  • Is one screening test better than another?
  • Do a large number of people who receive the screening test undergo unnecessary follow-up tests and procedures?


Quality of Life/Supportive Care/Palliative Care Trials

These trials look at ways to improve quality of life for cancer patients, especially those who have side effects from cancer and its treatment. The trials find new ways to help people cope with pain, nutrition problems, infection, nausea and vomiting, sleep disorders, depression and other health problems.

These trials might test drugs, such as those that help with depression or nausea, or they might test activities, such as attending support groups, exercising or talking with a counselor. Some trials test ways to help families and caregivers cope with their own needs as well as those of the person with cancer.

Researchers who conduct these studies want to know:
  • How does cancer and its treatment affect patients and their loved ones?
  • What can improve the comfort and quality of life of people who have cancer?
 (Source: National Cancer Institute)


Clinical Trial Phases

A clinical trial is one of the final steps in a long and carefully controlled research process that begins in the laboratory, where scientists develop and test new ideas. If a new approach seems to be safe and effective there, it may then be tested on people in the following phases:


Phase I

Purpose:
  • To find a safe dose
  • To decide how the new treatment should be given (by mouth, in a vein, etc.)
  • To see how the new treatment affects the human body
   Number of people taking part: 15 to 30


Phase II

Purpose:
  • To determine if the new treatment has an effect on a certain cancer
  • To see how the new treatment affects the human body
   Number of people taking part: Fewer than 100


Phase III

Purpose:
  • To compare the new treatment (or new use of a treatment) with the current standard treatment
Number of people taking part: From 100 to several thousand

(Source: National Cancer Institute)


Is a Clinical Trial Right for You?

Deciding whether to participate in a clinical trial is an important personal decision. Find out if a clinical trial is right for you


Clinical Trial Safety

Federal rules help ensure that clinical trials are safe. Your rights and safety are protected through informed consent. Informed consent is more than just reading and signing a piece of paper. Informed consent is a process of:
  • Explanations and discussions throughout the study to help you make decisions about joining or continuing in the study
  • Written information about the clinical trial ,including:
    • The purpose of the study
    • Potential risks and benefits
    • Treatment procedures and schedule
    • Other treatments available to you
In addition, you will be protected through:
  • Careful review and approval of the clinical trial protocol by:
    • Scientific experts
    • An institutional review board (IRB)
  • Ongoing monitoring of the trial by:
    • The IRB
    • Data and Safety Monitoring Boards (DSMBs) for phase III trials
    • The organization sponsoring the trial
    • The research team
(Source: National Cancer Institute)


Clinical Trial Risks

Like all treatment options, clinical trials have possible benefits and risks. Below are some risks of enrolling in a clinical trial:
  • The new treatment may not be better than, or even as good as, the standard treatment.
  • New treatments may have side effects that doctors do not expect or that are worse than those of the standard treatment.
  • You may be required to make more visits to the doctor than if you were receiving standard treatment. You may have extra expenses related to these extra visits, such as travel and child-care costs.
  • You may need extra tests. Some of the tests could be uncomfortable or time consuming.
  • Even if a new treatment has benefits in some patients, it may not work for you.
  • Health insurance may not cover all patient care costs in a trial.
(Source: National Cancer Institute)


Leaving a Clinical Trial

Participation is 100 percent voluntary. You have the legal right to quit any clinical trial, at any time, for any reason. When withdrawing from a clinical trial, the participant should let the research team know about it along with the reasons for leaving the study.


Questions to Ask Before Enrolling in a Clinical Trial

Before beginning a clinical trial, all volunteers are given a detailed explanation of the study. If you are considering participation, you may want to ask these questions:

About This Trial

  • What is the purpose of the trial?
  • Why do the researchers believe that the treatment being studied may be better than the one being used now? Why may it not be better?
  • How long will I be in the trial?
  • What kinds of tests and treatments are involved?
  • How will the doctor know if the treatment is working?
  • How will I be told about the trial’s results?
  • How long do I have to make up my mind about joining this trial?
  • Who can I speak with about questions I have during and after the trial?
  • Who will be in charge of my care?
  • Is there someone I can talk to who has been in the trial?

Risks & Benefits

  • What are the possible side effects or risks of the new treatment?
  • What are the possible benefits?
  • How do the possible risks and benefits of this trial compare to those of the standard treatment?

Rights

  • How will my health information be kept private?
  • What happens if I decide to leave the trial?

Costs

  • Will I have to pay for any of the treatments or tests?
  • What costs will my health insurance cover?
  • Who pays if I’m injured in the trial?
  • Who can help answer any questions from my insurance company?

Daily Life

  • How could the trial affect my daily life?
  • How often will I have to come to the hospital or clinic?
  • Will I have to stay in the hospital during the clinical trial? If so, how often and for how long?
  • Will I have to travel long distances?
  • Will I have checkups after the trial?

Comparing Choices

  • What are my other treatment choices, including standard treatments?
  • How does the treatment I would receive in this trial compare with the other treatment choices?
  • What will happen to my cancer without treatment?
(Source: National Cancer Institute)