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Roswell Park Comprehensive Cancer Center
Buffalo, New York
877.275.7724 (877.ASK.RPCI)

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Genetic Testing


The Clinical Genetics Service at Roswell Park Comprehensive Cancer Center is committed to the provision of quality genetic services by professionals with expertise. The team includes the director, who is a licensed physician board-eligible in Medical Genetics and board-certified in Preventive Medicine, as well as board-certified genetic counselors who act as institutional and community resources for these services. The program offers clinical genetic testing for cancer-associated susceptibility genes that have been recognized by the New York State Department of Health Wadsworth (Genetics) Laboratory as having potential clinical value.

Clinical testing for cancer-associated susceptibility genes is offered in conjunction with appropriate cancer and genetic risk assessment, comprehensive genetic consultation, assessment of criteria for eligibility for testing, and a thorough process of informed consent. Roswell Park Cancer Institute is also involved in both scientific and clinical research studies, some of which include elements of genetic testing and/or enhanced screening for persons at increased risk.


Buffalo, New York

Director, Clinical Genetics Services

Nicoleta Voian, MD, MPH

Schedule Appointments



Roswell Park provides a full range of genetic services, including risk assessment and counseling, testing, screening, risk management and prevention approaches, and research. The following sets out the components of the comprehensive genetic testing program.

Intake Process

Physician and Community Awareness

The Clinical Genetics Service offers and has provided an extensive array of education programs for professionals and staff within and outside Roswell Park Comprehensive Cancer Center. Also, programs are offered to community health care providers and the lay public such as community agencies, graduate and undergraduate students at universities/colleges, high and middle school students, and support groups. Presentations are also made at state and national meetings and conferences.


Presentations for UB and Roswell Park Comprehensive Cancer Center residents, fellows and scientists.

Identify Eligible Subjects/Referral

The clients and families seen by the Roswell Park Clinical Genetics Service are referred by:

  • Physicians and clinics within the institute
  • Physicians/health care providers extending from the local area to across the state
  • Individual client inquiry and self-referral

Pre-test Counseling and Risk Assessment

Clinical genetic services include consultation with individuals and families who are at risk for, or who are concerned about, hereditary susceptibility to cancer. The consultation includes:

  • Assessing hereditary cancer risk
  • Educating about the biology and genetics of specific cancers
  • Constructing a genetic pedigree
  • Determining co-existing physical or medical problems that may be associated with cancer genetic syndromes
  • Informing about and/or arranging for genetic testing
  • Discussing alternatives to genetic testing
  • Addressing social, ethical, and legal issues involved with genetic testing

It also includes discussing potential use of genetic testing results for medical management and/or health care; effecting informed consent; and advising about and reinforcing appropriate cancer screening measures, testing, and referrals. Furthermore, genetics professionals assist the client and/or family in understanding potential risk to relatives and offer assistance in communicating with and/or offering genetic consultation to these relatives.

Risk assessment and counseling occur prior to testing and, if the client undergoes genetic testing, risk assessment and counseling are re-evaluated in the context of the test results.

Informed Consent Procedures

An informed consent process is an integral part of offering any clinical genetic testing for cancer-associated susceptibility genes. Every element of the informed consent document is completely addressed during the genetic consultation prior to presenting the individual with the actual document. These consents include all of the essential components mentioned under pre-test counseling. Furthermore, genetic testing proceeds as needed on a case by case basis; it may not be offered on the same day as an initial, complex consultation to assure that the person is informed, insurance coverage is in place and all questions have been addressed.



Confidentiality Standards

Recognizing the importance of confidentiality and privacy for results of individual genetic testing, Roswell Park has implemented the following mechanisms:

  • Clinical genetic test specimens and requisitions are sent out and results are received back directly by the Clinical Genetics Service.
  • The result of the test is communicated directly to the client.
  • The Clinical Genetics Service also recognizes the potential that genetic test result information is relevant to medical management. Thus, we encourage the individual to share this information with their health care provider and their family members, but also stress the importance of discussing how this confidential information should be handled.
  • In the context of genetic testing done as part of research protocols, individuals are informed that
    • the purpose of these efforts is to further understanding of the scientific basis of cancer
    • they will not receive any individual result
    • that the specimen may be handled in an anonymous fashion
    • the laboratories and scientist performing these tests are highly qualified
  • The Clinical Genetics Service, with the support of the Medical Records Committee, has established that
    • the genetics pedigree will be incorporated into a specific section of the medical record,
    • names/identifiers of relatives are not included in the main Roswell Park chart and,
    • a special subcommittee will address how issues related to genetic testing results are and will be handled.


Roswell Park uses licensed commercial laboratories for most cancer gene testing. Laboratories that have New York State certification for genetic testing and have a New York State permit for the specific gene test perform all clinical genetic testing.

Available Testing at or Through Roswell Park Cancer Institute (note: this is a representative, not a complete, list)

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2

Familial Adenomatous Polyposis APC
Colon Cancer

Lynch syndrome (Hereditary non-Polyposis Colon Cancer) MLH1, MSH2, MSH6, PMS2 and EPCAM

Li-Fraumeni Syndrome TP53

Multiple Endocrine Neoplasia 1 MEN 1

Multiple Endocrine Neoplasia 2 RET

Retinoblastoma RB1

Cowden Syndrome PTEN

Laboratory Quality Assurance

Laboratories that have CLIA and New York State certification for genetic testing and have a New York State permit for the specific gene test perform all clinical genetic testing. These laboratories include but are not limited to Myriad Genetics, Inc., Johns-Hopkins, Boston University, Yale, as well as others relevant to the specific gene or condition.

Test Result Interpretation

Genetic experts analyze and interpret all genetic testing results in light of the client's overall health risk assessment, including personal and family history, the published literature, and database repositories of mutations (through laboratories, the Internet, and other resources). The risk conveyed by a specific mutation is estimated based on all the above data for each individual's case.


Post-Test Counseling and Follow-up

Post-test Counseling

All results of clinical genetic testing are provided in person by one of the CGS genetics professionals. Findings of the genetic testing are communicated and explained, together with interpretation of the significance and limitations of these results. Interpretation also includes how this information may be clinically applicable, how the information may modify risk, that this information should not be used as the sole factor in making clinical decisions, how this information may be relevant to other relatives in the family, and considerations about handling and confidentiality of the results.

Follow-up care is addressed through return to specific clinics, referrals as indicated, coordinating with the primary care provider, and encouraging regular re-contact with genetic services with the understanding that knowledge in this area is rapidly evolving.

Cancer Screening

The Clinical Genetics Service encourages clients and families to follow recommended cancer screening guidelines as well as early and enhanced approaches to screening, when appropriate, and to follow-up regularly with this or another genetics service to learn of any new development that may be relevant to that individual or family.

Chemoprevention, Medical and Surgical Management

Prophylactic treatment and interventions are mentioned as one approach to risk management; however, the expert resources of surgical and medical oncologists at Roswell Park address these considerations more specifically and extensively.

Psychological and Supportive Services

Roswell Park has several full-time psychologists who are available to individuals and families for consultation. Roswell Park also has an active Social Work and Case Management Department and support groups.



The genetics professionals of the Roswell Park Clinical Genetics Service support genetics research studies and clinical trials both directly and indirectly. Individuals and their interested relatives are encouraged to consider participation in research studies to further understanding about genetics and cancer. Both clinical and basic science research areas are evolving as new information comes to light.

Research Area


Identifying New Genes and Genetic Syndromes

The genetics professionals collaborate with several departments within the Institute to support research to identify new cancer susceptibility genes; this includes a grant award with the CGS Director as co-PI. Some of these projects include: analyzing genes in families with large numbers of affected individuals with multiple non-site-specific cancers; evaluation of benign masses or skin lesions and increased head circumference and their relation to cancer genetic syndromes; and previous endeavors, including recruiting volunteers whose genetic material was key to research to sequence the Human Genome.

Improving Awareness of Genetic Resources

Through a study entitled "DNA Banking: Saving for the Future," the genetic professionals administered a questionnaire to cancer genetic counselors and New York State oncologists regarding their awareness and utilization of DNA banking. Results from this study have been used to create educational materials for both health care practitioners and the general public.

Improving Testing Methods

The Clinical Genetics Service adheres to the New York State Genetics Laboratory Testing Program, which requires use of a New York State-approved laboratory for clinical genetic testing. We participate in studies to evaluate the fidelity of and to explore approaches to modify genetic testing. Researchers at Roswell Park use and develop innovative techniques for genetic analyses.

Chemoprevention Trials

Genetics professionals take an active role in informing about and promoting chemoprevention trials. For example, a letter was sent to individuals in the Family Cancer Registry, informing them about upcoming chemoprevention trials for families with colon cancer.

Discovering Clinical Treatments for Genetic Disorders

The clinicians and scientists at Roswell Park are actively involved in research efforts, treatment protocols, and networks with other professionals to integrate current treatments and foster innovative approaches.

Studying Impact of Receiving Genetic Information on Health-Related Outcomes

The Clinical Genetic Service is evaluating the influence of genetic information on risk management behaviors and quality of life factors.

Tracking Long Term Results of Prophylactic Surgeries

The various services/departments at Roswell Park each follow their clients who have undergone prophylactic surgery.

Familial Registries/Databases

The Clinical Genetics Service is in the process of compiling data from individuals and families seen through the clinical service into a pedigree and database system, which has the necessary mechanisms for passwords and security of information. This Clinical Genetic Service also works closely with existing Roswell Park registries and databases, including the Family Cancer and the Gilda Radner Ovarian Cancer Registries and the Roswell Park Comprehensive Cancer Center Data Bank and BioRepositories. Individuals and families within these registries actively participate in efforts to support research in genetics and cancer. The Roswell Park Cancer Institute also has some site-specific cancer registries.


Other Components of Genetic Services

Quality Assurance

The quality assurance of genetic services is addressed in several ways. These include: implementation of IRB and clinical protocols, as well as awareness and implementation of existing guidelines and standards as defined by professional genetics organizations (American Society of Human Genetics, American College of Medical Genetics, National Society of Genetic Counselors, and International Society of Nurses in Genetics).

Roswell Park Comprehensive Cancer Center genetics and oncology professionals also participate in genetics guidelines development and are members of the Steering Committee and Guidelines Development Committee for Clinical Guidelines for Breast Cancer Risk Assessment and Genetic Testing, supported by the American College of Medical Genetics and the New York State Department of Health. In addition, staff actively participate in and promote attention to the ethical, legal, and psychosocial aspects of genetic evaluation and testing.

Training/Professional Development

The Clinical Genetics Service Director and professionals actively foster training and mentoring of all health care professionals as it relates to genetics/genomics and health care, most recently exemplified by a three month rotation for a Prevention Medicine resident, a two week rotation for a West Point Cadet interested in Medicine and Genetics, and a summer student intern, and several other interning students. In addition, the genetic professionals present at, and participate in, many institutional and national continuing education programs for physicians and other allied health care professionals in the area of oncology and genetics.