Tag: Testing

BRCA alone or Expanded Breast Cancer Gene Panel

Breast Cancer

A Multigene breast cancer panel had a higher diagnostic yield than BRCA 1/2 Testing alone

A patient with a strong family history of breast and ovarian cancer wanted to know if there was any advantage to doing the broader panel vs. just BRCA 1/2.  Her family history was notable for breast cancer in her mother at age 52 and an aunt with ovarian cancer at age 47.  The family history was also notable for a maternal uncle with colon cancer and her maternal grandfather had Non-Hodgkins Lymphoma.  Unfortunately, her insurance had a very high deductible and she was going to pay out of pocket.  The BRCA 1/2 test alone can be done for $1500 but the multi-gene panels are much more expensive depending on the laboratory and the additional tests involved.

To answer this question we refer to a recent article published in the Annals of Surgical Oncology form July 2015. In the olden days prior to new methodology of next generation sequencing the strategy would always be to test sequentially.  In this case, that would be doing BRCA 1/2 first and if negative then move to the other genes that are less penetrant but confer an increased risk for breast/ovarian cancer.

In this study, they took patients that had undergone only BRCA 1/2 testing and then did further multi-gene panel testing.  The detection of BRCA 1/2 mutations were the same as would be expected because next-generation sequencing should also identify BRCA mutations.  However, approximately 4% of women were found to have non-BRCA mutations that were considered pathogenic or contributing to disease.  Most improtantly, almost 14% of women were identified to have Variants of Unknown Significance (VUS) in non-BRCA genes.

VUS usually require more interpretation in light of the family history but in cases where there is a strong family cancer history, many of them can be interpreted to be significant and contributing to breast / ovarian cancer risk and other cancer risk in that family and individual.

So what is our Testing Strategy:

  • BRCA 1/2 alone if the family history is significant for only breast cancer and/or ovarian cancer
  • Multi-gene panel if there is additional family history of non-breast / ovarian cancer.

If you have questions about testing strategy please call us at 352-235-9636 or toll-free at 855-474-8522

or

Schedule a Video Consultation

My PSA is high but I don’t have symptoms. Do I need a biopsy for possible prostate cancer?

PSA, PHI, Prosate Cancer

The Prostate Health Index (PHI) test and when it can be useful to diagnose prostate cancer

 

 

Our patient today had a PSA of 7.4.  He is a 67 year old Caucasion male with no other medical issues other than episodic high blood pressure.  He does report some mild urinary symptoms mostly involving going to the bathroom frequently but his urine stream is normal and he has no incontinence or dribbling.

He has had PSA testing in the past.  At one point it was 7.1 but after he saw a holistic practitioner it decreased to 4.5.  Approximately 6 months later it was 7 again and his primary care doctor thought it was worth evaluating further.  He did not want a biopsy and so had a prostate ultrasound performed and an examination by a Urologist.  His prostate was smooth and the ultrasound was benign so it was considered appropriate to just watch him.

The new PSA was 7.4 which does represent an increase from previous.  In addition, his urinary symptoms has worsened but not drastically so.  He still had a normal stream but had increased frequency in compared to before.

For a better risk assessment, we performed a Total and Free PSA.  Many physicians are not familiar with the Free PSA.

In men over 50 with an elevated Total PSA, the %Free PSA gives an estimate of the probability of prostate cancer

Our patient had a Total PSA = 7.4 and a %Free PSA – 22%. In this case, the ideal %Free PSA should be over 25%.  The lower the %Free PSA the greater the greater the probability of cancer.  Here is a table that shows the Estimated Probability of prostate cancer.

PSA(ng/mL)      Free PSA(%)     Estimated(x) Probability
                                     of Cancer(as%)
0-2.5              (*)               Approx. 1
2.6-4.0(1)         0-27(2)                   24(3)
4.1-10(4)          0-10                      56
                   11-15                     28
                   16-20                     20
                   21-25                     16
                   >or =26                   8
>10(+)             N/A                      >50


Given that our patient's Total was in the 7 range and the high Free PSA, the probability of cancer is low but still significant at 16%



Here is a nice graph from Quest: showing our possible decision tree.

 

This patient had a normal rectal examination so the liklihood of cancer based on the testing is still low but significant.  The next options are to refer for a biopsy, which he did not want, wait to re-test in 3-6 months to see how the numbers may change or to see if we can’t further risk stratify.

If we want to further risk stratify then we can consider using the Prostate Health Index (PHI).

This patient, like many, fall into that category that often result in a biopsy but don’t have cancer.  See our image above.  Of course, one never knows and that is why the biopsy is performed because who want to be the statistic that ends up with prostate cancer.

To help with this decision, researchers looked for an alternative biomarker which led to the discovery of the PHI.  PHI offers greater specificity in identifying patients that truly need a biopsy.

Phi is the only FDA approved blood test that is 3 X more specific than PSA alone.

The phi combines the use of another biomarker called p2PSA which is an isoform of free PSA that is the most prostate cancer specific biomarker found.  When p2PSA is used with the total PSA, and free PSA, the diagnostic accuracy improves to 71%

Phi-table-large

If you are like our patient who falls into this gray zone area and are concerned about getting a biopsy. Please call us at 352-235-9636 or Toll Free at 855-474-8522

or Schedule an Online Diagnostic Consultation

What is the Cost of EDS Testing?

Collagen, EDS
Collagen

What is the cost of EDS testing?

We answered this question for a patient without insurance the other day. We asked for client pay pricing at a number of large genetic testing companies that perform EDS testing. To clarify, EDS testing for which we obtained pricing was usually for panels that tested for multiple subtypes of EDS as well as Marfan and syndromes associated with vascular aneurysms. The reason for this is that with improvement in molecular diagnostic technology, we know that there is great variability between individuals and the old classifications based on pure clinical features is not as relevant.  The clinical features can hint at one type of EDS over another but the reality is that every individual has different manifestations based on their own private genetic alterations within the various proteins involved in collagen synthesis, assembly and degradation.  As a result, it is much better to do broad panel testing.

I have had numerous patients prove me wrong.  Based on clinical criteria, I have diagnosed Hypermobile type only to find out with testing that they had classic or another version of EDS.  The variability between individuals is what makes us unique.

So what is the cost of EDS testing?

$1500-$1750 not including medical consultation

Breast Cancer in Men

Men

Men with Breast Cancer?

Say it isn’t so.  But yes it is.  Men can and do get breast cancer.  There were about 2500 cases of breast cancer in the US last year.

male breast cancer

What kind of symptoms do men with breast cancer get?

In men, breast cancer is usually a PAINLESS lump.  Usually it is hard and does not move and is in the area just around the nipple.  The lump can be deep and does not need to be on the surface of the skin.  Since men don’t usually check their breast or chest area, breast cancer is usually advanced in men by the time of diagnosis.  Most men have advanced stage III or IV disease by the time they get diagnosed.

As a man, am I at risk for Breast Cancer?

You may be at risk for breast cancer if there are other family members with breast cancer.  If you have two or more members of your family with breast or ovarian cancer or breast cancer at a young age, it would be advisable to first test the affected family members for the BRCA1 or BRCA2 genes before getting tested first.

 

 

Tests You should have with Alzheimer’s Disease

brain

Testing in Alzheimer’s Disease:

is often confusing since the diagnosis is usually a clinical diagnosis.  Most importantly, laboratory tests should be performed to rule out other conditions that may be contributing to the dementia.

Blood Testing should include the following:

  • Complete Blood Count (CBC)
  • Vitamin B12 (Cobalamin) levels
  • Liver Function Tests
  • TSH and Thyroid Panel to rule out thyroid disease
  • RPR
  • Vitamin D Levels

Imaging

The American Academy of Neurology recommends

  • MRI or noncontrast CT scan
  • Electronecephalography (EEG)
  • Cerebrospinal Fluid Levels (CSF) measurements in only select patients.
  • CSF  biomarkers tau and amyloid are only available on a research basis

APOE Genetic Testing

APOE is not useful as a tool to make a diagnosis.  However, APOE increases the odds of a positive diagnosis when there is also a positive family history.

In addition, APOE genotyping can help confirm that Alzheimer’s Disease is the correct diagnosis.

 

  • dna-diagnostics-center
  • pathway
  • Baylor Miraca
  • Quest-Diagnostics
  • labcorp_f