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Genetic Counseling and Testing Service

Introduction

The University of Michigan offers medical genetics and cancer genetics services through the Breast and Ovarian Cancer Risk Evaluation Program (BOCREP) and the Molecular Medicine and Genetics (MMG) Clinic. These programs provide comprehensive genetic services for individuals with cancer, their family members, and individuals with a family history of cancer. The focus is on pre-symptomatic risk assessment and management, diagnostic evaluation, client education, genetic testing, reproductive risk counseling, the coordination of multidisciplinary patient care and access to appropriate research protocols. Multidisciplinary teams staff the clinics, and include physicians who are board-certified and board-eligible in clinical genetics, oncology, gynecology, and surgery, as well as board-certified and board-eligible genetic counselors with training and experience in cancer genetics.

Location

Ann Arbor, Michigan

Director, Breast and Ovarian Cancer Risk Evaluation Program

Sofia D. Merajver, MD, PhD

Schedule Appointments

734.764.0107

Molecular Medicine and Genetics Clinic

Stephen B. Gruber, MD, PhD

Schedule Appointments

734.647.8906

The following tables set out the components of the comprehensive genetic testing program at the University of Michigan.

Intake Process

Physician Awareness

Staff from the U-M risk assessment and genetic counseling clinics offer continuing medical education for community physicians and nurses. Multiple venues for professional education are used for the 15-20 programs offered per year. Topics include updates on cancer genetics and counseling.

Patient Education

Clients receive education aimed at conveying basic genetic concepts and the relationship between genes and cancer. U-M has developed an original counseling handbook and CD-ROM for this purpose. Copies of this program are available for health professionals by calling 734.936.6884.

Referral

Practitioners throughout the region and beyond may access the U-M clinics through the intake phone lines or through the U-M CancerAnswer Line: 800.865.1125. Nurses trained in the intake process for cancer genetics staff the 800 number. They refer the client to the appropriate cancer genetics clinic at U-M. Community surgeons, internists, oncologists, gynecologists, family practitioners, and other specialists also routinely refer clients.

Identify Eligible Subjects

In order to adequately serve the rare and the more common syndromes associated with inherited breast and ovarian cancer, a comprehensive breast and ovarian cancer risk evaluation Program (BOCREP) has been dedicated to those clients with a family history of breast, ovarian, and other associated cancers.

The Molecular Medicine and Genetics (MMG) Clinic and Cancer Genetics Clinic evaluate clients with other potential familial cancer syndromes, such as familial colon cancer due to APC, HPNCC, Muir-Torre, and other colorectal cancer syndromes.

Patients receive comprehensive evaluation for Familial Melanoma and von Hippel-Lindau syndromes through the multidisciplinary melanoma and urologic oncology clinics in conjunction with cancer genetics evaluation by the MMG. The MMG has identified several families to date with the rare Li-Fraumeni syndrome. U-M offers comprehensive services to these family members.

Pre-test Counseling and Risk Assessment

Comprehensive risk evaluation targeted to the client's main concerns is accomplished via extensive pre-session preparation. Typically questionnaires are mailed to clients prior to appointments. Clients are encouraged to consult family members and records in the process of filling out the information. After the questionnaires are returned, genetic counselors draw a detailed pedigree and evaluate future cancer risk for both unaffected and affected patients using appropriate empiric or analytic models, as warranted by the history. If the patient is eligible and interested in genetic testing, the pre-test counseling and informed consent process for testing takes place.

After completing a medical and family history questionnaire, a client meets with a genetic counselor who discusses with the client the risks, benefits and limitations of testing. Genetic counselors cover a wide range of topics during this session, including the client's personal risk of cancer, behaviors thought to affect risk. (diet, smoking, and exercise/weight control). Eligibility for prevention protocols is also addressed.

Genetic counselors discuss how knowing whether a person carries a mutated gene will affect him/her medically, in decisions about screening or prophylactic surgery; socially, in terms of potential discrimination; and psychologically, with possible bouts of anxiety or depression.

At the BOCREP, women are instructed in proper breast self-examination, along with screening, diet, and lifestyle recommendations. After consultations, each client is sent a confidential letter that reviews these recommendations. This letter will be sent to the client's personal or referring physician as well.

Recommendations for special pediatric care in potential at-risk children and adolescents are issued as part of the care that families with Li-Fraumeni syndrome and Cowden syndrome receive.

Informed Consent Procedures

All testing for cancer susceptibility genes requires the client sign an informed consent document. This is required by Michigan state law. Discussions take place prior to testing that cover potential risks and benefits of testing.

Testing

Confidentiality Standards

The client's family history is part of the medical record, as is documentation of physical examination findings and the fact that a genetic counseling session has occurred. A copy of the patient letter detailing all patient visits is dictated into the electronic medical record. No results of genetic testing are posted on the computer-based medical record. Results of genetic testing or the contents of the counseling discussion are disclosed to other parties only with explicit written permission of the client.

Testing

Licensed commercial laboratories are used for most cancer gene testing at U-M. Depending on the test, different labs have been found to be most suitable for clients' needs. Based on the family history, the doctor may recommend BRCA1, BRCA 2, p53, PTEN, or mismatch repair gene testing, or if indicated, other appropriate genetic tests (i.e. chromosome analysis), as outlined below.

Available Testing at or Through U-M

Cancer/Syndrome Gene

Breast and Ovarian Cancer BRCA1 & BRCA2, p53, chek2

Familial Adenomatous Polyposis Colon APC
Cancer

Hereditary non-Polyposis Colon Cancer MLH1, MSH2, MSH6, PMS2

MYH associated Polyposis MYH

Familial Melanoma p16 or CDK2NA

von Hippel-Lindau VHL

Li-Fraumeni Syndrome p53

Cowden Syndrome PTEN

Peutz Jegher Syndrome STK11

Laboratory Quality Assurance

All laboratories offering testing are CLIA approved.

Test Result Interpretation

The medical geneticist/oncologist interprets 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 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

The results of the genetic testing and interpretation of results are communicated to the client in a face-to-face counseling session. Arrangements are facilitated with other cancer genetics clinics for family members seeking counseling at locations outside U-M.

Cancer Screening

The genetics counseling team recommends evidence-based surveillance strategies and addresses periodicity of exams and imaging modalities, and use of serologic markers. Screening for early detection of breast, ovarian, colon, prostate, and other cancers are discussed with clients as appropriate. Syndrome-specific recommendations are issued for von Hippel-Lindau, Li-Fraumeni, Cowden syndrome, hereditary colorectal cancer, and other syndromes.

Medical and Surgical Management

As part of the outcome, follow-up care recommendations are issued in writing to the client and to the referring health care provider. These instructions describe the cancer risk, recommend alterations in lifestyle, and frequency of screening tests. Clients are informed before the pre-test counseling starts that such a letter will be sent to the referring physician.

Referrals for surgery, gynecology, dermatology, and other medical services are implemented in a syndrome- and client-specific fashion.

Psychological and Supportive Services

Referrals for short- or long-term counseling and support groups, peer groups, and counselors are available for clients.

Research

Most aspects of genetic risk assessment for cancer susceptibility syndromes warrant evaluation by research protocols, as standards of care are being defined. Appropriate referrals are made for such studies at U-M and at other institutions.


Identifying New Genes

The Prostate Cancer Genetics Project at U-M was established to determine possible genetic causes of prostate cancer. Families in which more than one individual has been affected with prostate cancer can participate in a study.

Families in which colorectal, familial melanoma, and von Hippel-Lindau syndromes occur may volunteer so researchers can study the relationships between genes, and between genes and the environment.

Families with breast and ovarian cancer are recruited to investigate gene modulation of penetrance, psychosocial impact of genetic testing and counseling, and novel methods of conveying risk information such as electronic media and CD-ROMs.

Improving Counseling Methods

At the U-M BOCREP, research studies on perceived risk and influence of risk on screening practices, lifestyle, depression, mood, attention, and satisfaction with the informed consent process are underway. The U-M is very active in research on using novel methods of conveying risk information, such as electronic media and CD-ROMs in genetic counseling.

Improving Testing Methods

MRI is now considered standard of care for BRCA1/2 patients, and genomic deletions are now tested for routinely in BRCA1/2 by Myriad Genetic Laboratories.

Implementing Chemoprevention Trials

The chemoprevention trials have closed

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

Mechanisms for ascertaining satisfaction with prophylactic surgery choices are being implemented. The BOCREP tracks the incidence of second malignancies and recurrences on a yearly basis.

Participating in Familial Registries or National Registries

The client's socioeconomic, demographic, personal, and genetic test result information is kept in an encrypted manner as part of the BOCREP database. A separate informed consent must be signed for provision of patient's information to national registry databases, where all mutations are entered anonymously (without cross-reference to the patient) in Internet-based, password-accessible data repositories.

U-M participates in the North American and European Breast Cancer Linkage Consortium.

Studying the Impact of Receiving Genetic Information on Health-Related Outcomes

Mechanisms for ascertaining the outcome and adherence to lifestyle changes and screening recommendations are being implemented.

Other Components of Genetic Services

Quality Assurance

The BOCREP is sponsored by the U-M Comprehensive Cancer Center and thus is subject to its quality control procedures.

Genetic counselors periodically review records to compare risk assessment for clients with similar histories for consistency. Protocols for evaluating client satisfaction with the information received and the informed consent process are in development.

Training

The U-M Department of Human Genetics has been in existence for over 40 years. It offers opportunities for advanced training and research in several fields including:

Biochemical genetics

Clinical genetics

Cytogenetics

Developmental genetics

Genetic epidemiology

Genetic counseling

Molecular genetics

Neurogenetics

Population genetics

Somatic cell genetics