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Genetic Testing


The University of Alabama at Birmingham provides access to clinical cancer genetics through a breast cancer risk assessment clinic and the UAB Familial Cancer Clinic for patients who may be at high risk for inherited cancer syndromes. The clinics provide a formal risk assessment program, education in cancer genetics, predisposition testing, and management strategies. The nurse who oversees the Interdisciplinary Breast Cancer Clinic also runs the breast assessment clinic. A psychologist, board-certified oncologist, and ABMLI- and AABB-certified geneticist staff the Familial Cancer Clinic.



Birmingham, Alabama

Genetic Clinic

Nathaniel Robin, MD

Schedule Appointments



O'Neal Comprehensive Cancer Center at UAB 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


Community and Physician Awareness

UAB directs an NIH-funded outreach program that is designed to assess the knowledge of rural primary care physicians in regards to clinical cancer genetics. Participating physicians undergo a pretest followed by teaching from a formal curriculum with CME credit. Physicians then receive a follow-up assessment. In addition, UAB hosts a yearly oncology course with updates on cancer genetics.

Patient Education

Interested candidates are mailed a UAB brochure that gives a basic overview of fundamental concepts of genetics and a brief description of the services offered at UAB. Once the initial counseling process has occurred, the candidates may be given more specific material, such as information pertinent to individuals of Ashkenazi Jewish extraction.

Identify Eligible Subjects/Referral

Individuals who are interested in refining their risk of an inherited cancer syndrome are seen by self-referral or referral from physicians. Prior to being seen, a comprehensive family assessment packet is mailed and an appointment in the clinic is made once the packet has been received. At the initial appointment, the candidate is given a copy of the constructed pedigree and the family history is reviewed in detail.

Pre-test Counseling

At the initial appointment, the risk for a specific inherited syndrome is discussed and the individual is given a letter detailing his/her risk. Candidates who meet defined criteria for testing and who are interested in genetic testing then discuss with the geneticist and oncologist the procedure of genetic testing, its limitations, possible psychological impact, and risk for potential employer/insurance discrimination. Potential strategies for follow-up surveillance are discussed, as well as possible chemoprevention trials. Candidates who wish to proceed return for testing at a second appointment, at which time informed consent is obtained.

Informed Consent Procedures

At the time of genetic testing, all candidates sign an approved consent form that details the process of genetic testing and discusses the potential risks and benefits.




Confidentiality Standards

Documentation of the visit to the Familial Cancer Clinic is kept separate from the standard clinic chart. Information regarding pedigree and refined risk for cancer are forwarded to the referring physician only at the request of the patient. Results from genetic testing are kept in the Familial Cancer Clinic chart and are not entered into the computerized laboratory retrieval system. These results also are not forwarded to the referring physician unless the patient requests this; UAB has not required written permission to forward test results if the patient requests this at the counseling appointment.


Currently, the majority of tests for the recognized hereditary cancer syndromes are referred out to licensed commercial laboratories. Genotyping for hemochromatosis and chromosome analysis for leukemia are offered by UAB.

Available Testing at or Through UAB

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2

Familial Adenomatous Polyposis APC

Hereditary non-Polyposis Colon Cancer MLH1, MSH2

Familial Medullary Thyroid Cancer RET, MEN2A & 2B

Li-Fraumeni Syndrome p53

Lung Cancer p16, PTEN

Multiple Endocrine Neoplasia MEN1

Prostate Cancer HPC1

Retinoblastoma, Familial RB1

Laboratory Quality Assurance

All laboratories offering testing are CLIA approved.

Test Result Interpretation

The medical geneticist interprets all test results. The risk of cancer conferred by a single mutation is estimated based on available information about the penetrance of specific mutations.


Post-Test Counseling and Follow-Up


Post-test Counseling

Individuals who have undergone testing are contacted to return for a follow-up appointment once their test results are received. Test results are disclosed with the medical oncologist and geneticist present and the family history is again reviewed. Appropriate follow-up recommendations are made to the individual based on their family and personal history.

Risk Assessment

For individuals interested in assessing their risk for an inherited cancer syndrome, a family assessment packet is mailed and a detailed family pedigree is constructed from information provided by the individual. Risk information for a specific syndrome is written in a detailed letter and discussed with the patient.

Women seen in the breast cancer assessment clinic fill out a detailed questionnaire and, if they have a significant family history for breast cancer, are referred to the Familial Cancer Clinic. For those women without a family history of breast/ovarian cancer, specific lifestyle recommendations are made with regard to diet, exercise, hormone replacement therapy, etc.

Cancer Screening

Appropriate screening procedures for specific cancers are discussed with the individual based on the family and personal history.

Medical and Surgical Management

Specific recommendations and referrals are made for follow-up care based on the risk assessment profile. Patients receive a spreadsheet detailing their pedigree and a written summary of their family history. This summary also describes their risk of developing a specific cancer and the risk of being a carrier of one of the clinically recognized genes associated with cancer syndromes. A copy of the letter is sent to the referring physician and any other physician at the request of the patient.

Psychological and Supportive Services

Appropriate referrals for emotional or psychiatric support are made based on a case-by-case basis. There are also support groups, medical social workers, and counselors available for support if needed.



UAB Comprehensive Cancer Center is involved in genetic research focusing on:


Identifying New Genes

There are several basic research laboratories investigating the genetic causes of cancer at the University of Alabama.

Improving Counseling Methods

Several ongoing research projects investigate how well information about genetic testing is conveyed to patients. Two projects are also offering online counseling to ascertain whether this is a feasible method of assessing risk for cancer. As a follow-up companion study, information about how changing risk information affects intent to engage in recommended preventive screening is being assessed.

UAB has a project exploring computer interactive support groups and one assessing retention of medical information as it pertains to genetic counseling.

Implementing Chemoprevention Trials

Several chemoprevention trials are underway at UAB including the breast cancer-specific intergroup STAR trial.

Discovering Clinical Treatments for Genetic Disorders

There are several gene therapy programs present at UAB that include a Comprehensive Sickle Cell Program, and gene therapy programs directed at breast, melanoma, lymphoma, and CNS tumors. UAB has a long-standing interest and expertise in monoclonal and vaccine therapies that are applied to a variety of tumors.

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

The tumor registry tracks follow-up and recurrences on a yearly basis.

Participation in Familial Registries or National Registries

The Familial Cancer Clinic keeps a database tracking genetic test information without specific patient identification. This information is also forwarded to a national registry database.

Studying Impact of Receiving Genetic Information on Health-Related Outcomes

Studies as to how patients process genetic information are ongoing and have been published in peer-reviewed journals.


Other Components of Genetic Services


Quality Assurance

Studies are underway to determine how well information was retained from the initial counseling session and how it impacted health behaviors.


The UAB Familial Cancer Clinic melds clinical oncology, risk assessment, and genetic testing and has been operational for one year. The Immunogenetics Clinic has existed for 20 years. Training programs are available at UAB in the fields of immunogenetics, clinical genetics, and molecular genetics.