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Case Examples

Case Examples for Service Level 1/ Initial Assessment:

THIS SERVICE IS REQUIRED OF ALL NEW CLIENTS AND WILL HELP YOU GET STARTED
 

  • My sister was just diagnosed with breast cancer and was told that the family should look into genetic testing.  What would I learn if I have genetic testing myself, since I have regular mammograms anyway?
  • I was diagnosed with colon cancer at age 40.  I have no information about my family history and I have children.  Can genetic testing help my doctor with treatment information and my family with management information?
  • My brother was recently diagnosed with a clotting condition.  My doctor is concerned that this could be genetic and feels that he needs more information before he recommends that I get tested. 
  • I have several cousins who are mentally retarded.  Can genetic testing help to predict whether I am at risk for children with mental retardation?

 

Case Examples for Service Level 2/ Medical Record Retrieval:

WHEN YOU NEED HELP WITH MEDICAL RECORDS OR SPECIMEN LOCATION 

 
  • I could use help in locating the records of several relatives who have cancer (with their permission), so that I can appreciate my cancer risk.
  • I have already spoken to you for Initial Assessment, and I could now use help in locating records and tissue related to my colon cancer so I can pursue genetic studies.
  • My mother died of a female-related cancer.  I would like help in locating her medical records so that I can understand my genetic risk.

 

Case Examples of Service Level 3/ Personalized Risk Assessment:

THIS SERVICE WILL GIVE YOU THE INFORMATION YOU NEED TO UNDERSTAND YOUR RISK AND TO HELP YOU DECIDE IF GENETIC TESTING MAKES SENSE FOR YOU   

  • I  am 39 and have just been diagnosed with breast cancer.  My doctor would like me to have genetic testing to better understand my future risks, since I will need to make surgical and medical decisions soon.
  • My gastroenterologist is concerned about my own clinical history as well as my family history of colon and uterine cancers.  He has suggested that I have genetic testing to help him with recommendations for me.
  • My dermatologist is concerned about some unusual skin findings.  Given my family history of cancer, she suggested genetic counseling to review my eligibility for some of the testing she is considering.

 

Case Examples for Service Level 4/ Insurance Authorization Requests:

WHEN YOU NEED HELP WITH INSURANCE COVERAGE FOR TESTING

  • My doctor has advised me to have BRCA testing, however my family history doesn't clearly meet my insurer's criteria. 
  • I already had the BRCA test 2 years ago, and have been advised that testing should be repeated because of enhancements to the test.
  • My family doctor cannot verify coverage for a genetic test which he feels would be helpful to me.
  • My cardiologist suggests that I verify coverage for testing that he hopes to order.   

 

Case examples of Service Level 5/ Genetic Testing Coordination / DNA Banking:

WHEN YOU and YOUR DOCTOR NEED HELP WITH GENETIC TESTING AND DNA BANKING

  • After Personalized Risk Assessment, I feel that my breast and ovarian cancer risk is significant enough that genetic testing information would be useful. 
  • I would like to go ahead with testing.  It is clear which testing I need, and I understand what testing could tell me.  I have already spoken to Genetic Counseling Services (Initial Assessment or Personalized Risk Assessment) and have weighed all of the information.  Others in my family have already had this testing.
  • I would like to go ahead with testing.  My sister has a BRCA genetic mutation, and I would like to know whether I have it also.  I don't believe that I need personalized risk assessment  because my physician has spoken to me extensively.  (Physician documentation of risk assessment including, Gail, BRCAPro and Tyrer, Claus (and other models, as applicable,  documentation of efforts to acquire family medical records/  cancer pathology reports, as well as notes which document physician discussion of testing implications-- will need to be provided).  Please be advised that Initial Assessment/ Service Level 1 is required of all clients, so that we can review your case prior to coordinating testing.
  • My cardiologist has recommended specific testing which I have spoken to you about through Initial Assessment, and I wish to go ahead with it.      

 
Case Examples for Service Level 6/ Customized Genetic Research:

WHEN YOU NEED CUSTOMIZED HELP/ INDIVIDUALS OR INSTITUTIONS

  • I am an HMO medical director seeking information about genetic testing for celiac disease.  I would like information on the comparative specificity and sensitivity of available testing.
  • I am a mutation carrier with breast cancer and would like to discuss my eligibility for current clinical trials, so that I can be prepared to discuss this with my doctor at my upcoming visit. 
  • I am an insurance company medical director looking to compare information on coverage policies for genetic testing of tumor tissue at the time of colonoscopy.
  • I am a hospital clinic coordinator attempting to organize genetic counseling service for my institution.  I would like to review our current system of assessing patients who seek genetic testing, and consider what your service can offer, as we prefer to coordinate many services through our own staff and facility.   

  

 

 

 

 



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