Tag: Genetics

What is the Cost of EDS Testing?

Collagen, EDS

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 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.



High Risk Breast Cancer Checklist

Checklist for Needing BRCA Testing

As part of Breast Cancer Awareness Month, our goal is to disseminate information about high risk Breast Cancer.  The most important question that needs to be answered is

What is my risk for developing Breast Cancer?

The need for further genetic testing and strategies for prevention start with answering this question.  It is a fairly difficult question to answer.  Most women are inaccurate in determining their risk for breast cancer.  We use a comprehensive statistical evaluation tool that looks at all risk factors for breast cancer to determine if an individual falls into the high risk category or not.  For a more detailed look at breast cancer risk factors see out other post. Breast Cancer Risk Factors

Breast Cancer
BRCA Testing Saves Lives

Table of Breast Cancer Risk Factors: http://geneticmedicineclinic.com/dev/breast-cancer-risk-factors/

Indications for Breast Cancer Genetic Testing

If you have numerous factors that place you in the high risk category or if you answer yes to any of the questions in our checklist below:

  • Do you have bilateral breast cancer?
  • Do you have breast cancer < age 45?
  • Are there two members of your family with breast and/or ovarian cancer?
  • Do you have ovarian cancer?
  • Are you of Ashkenazi Jewish ethnicity?

What tests diagnose high risk Breast Cancer?

Here is a nice video from Ambry Genetics, one of our testing partners on BRCA1 and BRCA2

Genetic Testing for BRCA

BRCA Testing
Breast Cancer Counseling

Genetic Testing for the BRCA genes in Hereditary Breast and Ovarian Cancer

is an important method for identifying patients who are at high risk.  The difficulty has always been identifying those at high risk.

Testing only Women with a family history of breast or ovarian cancer will identify only half the women with mutations

There becomes two issues: 1: Identifying Women at High Risk for Breast and Ovarian Cancer and 2:The established criteria where insurance will pay for testing.

The National Comprehensive Cancer Network (NCCN) criteria for patients who should have BRCA1 and BRCA2 testing are:

Family History of Breast Cancer
  • Relative with a previously identified BRCA1 or BRCA2 mutation
  • 1st/2nd-degree blood relative who meets any criteria in below sections
  • 3rd-degree relative with breasta and/or ovarianb cancer and ≥2 close blood relativesc with breast and/or ovarianb cancer
Personal History of Breast Cancera
Age at Diagnosis Additional Criteria (only 1 of the following is necessary)
≤45 y
  • No additional criteria necessary
≤50 y
  • ≥2 primary breast tumorsd
  • ≥1 close blood relativec with breast cancer
  • Limited family history
≤60 y
  • Breast cancer that is negative for ER, PR, and HER2 (triple negative)
Any age
  • Patient is male
  • ≥1 close blood relativec with breast cancer diagnosed by age 50 or with epithelial ovarian cancer diagnosed at any age
  • ≥2 close blood relativesc with breast cancer
  • ≥2 close blood relativesc with prostate cancer (Gleason score ≥7) or pancreatic cancer
  • ≥1 close male blood relativec with breast cancer
  • Ethnicity (eg, Ashkenazi Jewish) associated with higher mutation frequency
Personal History of Other (Nonbreast) Cancers
  • Epithelial ovarian cancerb
  • Pancreatic or prostate cancer with ≥2e close blood relativesc diagnosed with breast, ovarian,b pancreatic, or prostate cancer (Gleason score ≥7)

A Typical Genetics Consultation

genetics consultation

What to Expect with a Genetics Consultation

The goal of a Genetic Consultation can be for Diagnostic, Disease Management and Optimization or Counseling purposes.  As we learn more about the role of genes and their contribution to birth defects, diseases, disease risks, and medication metabolism (pharmacogenetics), we can use this information to provide Personal Medicine and Precision Medicine.

Before the Genetics Consultation or Genetics Visit

A Genetics Consultation is more involved than a typical medical office visit.  To assess the role of Genetics in the disease process, we need a lot of information in order to make the most of your visit.  Typically, visits may last from 60-90 minutes.

Before the appointment:

  • Write down your main questions and what you would like answered
  • In advance, please have your medical records sent to us so they can be reviewed prior to your visit
  • Please ask your family members and get as much family health history as possible
  • Please bring all of your medications or a list of them with dosages

What to Expect during your Visit

  • A review of your Medical History
  • A review of your pregnancy and childhood history
  • A review of your developmental history
  • A review of your family history
  • A Physical Examination
  • A review of your Laboratory testing, x-ray studies and any other testing you may have performed

Genetic Counseling

Depending on your condition and the reason for your visit, anticipate that we may begin the education process to help you understand the:

  • Role of genes and heredity in contributing to the disease process
  • Risk of disease manifestation and disease recurrence and risk of transmission to other family members
  • Different testing options and the advantages and disadvantages of each
  • Prognosis and options for management

For more information about our Genetics Consultation services, please contact us at 855-474-8522

To refer a patient for Genetics Evaluation Services, please fax a Referral Request to 877-465-6936

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

Testosterone in XYY Syndrome

Testosterone in XYY

How and When to Supplement with Testosterone in XYY Syndrome

We recently had a patient with XYY Syndrome.  XYY syndrome is a rare chromosomal abnormality that affects males.  There are many misconceptions about this disorder.  Our patient recently went to see his Primary Care Doctor who decided NOT to treat with Testosterone because the patients total testosterone was low normal.  No further testing was performed.

One of my medical school professors once told me: “You treat the patient, NOT the numbers,” and this patient is a great example.  Despite his low-normal levels of testosterone, upon talking to him further, he reported that he had a number of symptoms.  He had difficulty focusing and had some impulsivity (both seen in patients with XYY syndrome). Getting some childhood history, he was very tall but had delayed onset of puberty.  He had gynecomastia (breast development despite significant weight training) and small testes.  He reported issues with libido and problems with both erection and ejaculation.

For this patient, it is important not to “chase the numbers” but to provide treatment titrated to his symptoms. The goal is a level of free and bioavailable testosterone at the mid to mid-high levels of normal measured at a trough level (right before an injection).  There is no medical evidence to support this but the goal is to achieve a level that would be physiological and that would result in a physiological response in men (that don’t have XYY  or a chromosomal abnormality). The goal is to maintain testosterone levels at this mid level so depot forms of testosterone given every other week intramuscular is a good starting point but most patients require more frequent dosing.  I often suggest 200 mg every 10 days or every 7 days.  Most of the intramuscular preparations of testosterone are oil based so there is little difference between them in terms of efficacy.  Often, testosterone injections can be supplemented with topical testosterone gel, cream or foam.  This prevents severe troughs and a higher baseline level.  Also subcutaneous testosterone can be considered and there is much medical data that subcutaneous injection of the same dose but divided over a few days can result in better long-term maintenance.

Author: Dr. Maulik Shah

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636


How Good is the Color Genomics BRCA Test?

Angelina Jolie Breast Cancer, BRCA test

Color Genomics announced a $249 BRCA test today and the phones have been ringing all day.  The questions we have fielded all day:

1. Should I get it?

2. Why is it so cheap? Is it any good?

In fairness, we have not had any patients who have taken the Color Genomics BRCA or more accurately the Breast/Ovarian Cancer panel.  But we have reviewed their website and the white papers they offer.

The Genes:  Color Genomics analyzes 19 genes associated with hereditary breast and ovarian cancer.  The panel of genes is appropriate and quite comparable to many of the competing Genomic Testing companies through which we normally order Cancer Predisposition testing.  We would have no difficulty in recommending this panel of gene tests for women with a high-risk for breast/ovarian cancer development.

Methods: Based on the white paper from Color Genomics, the methodology is appropriate and comparable to most other laboratories performing BRCA testing.  They use a next-generation sequencing strategy that includes two positive controls.  Like most labs, they have appropriate quality control checks built into the DNA extraction and downstream processing aspects of the testing. In addition, they have done a pretty robust validation with known specimens with alterations in the 19 genes involved in the BRCA panel and showed that they could identify the genetic variant as established by other independent laboratories.

Laboratory: We have not visited the laboratory, however, Color Genomics has the appropriate regulatory stamps.  Having worked with lab reviewers and individuals involved in laboratory regulation, this is no small feat.  Color Genomics is CLIA certified (The federal regulatory body) and also adheres to quality control guidelines established by the College of American Pathologists.

Conclusion: Color Genomics appears to be a very legitimate laboratory offering BRCA testing at a very affordable price.

Concerns:  Our main concern is that this testing can be ordered and purchased directly online.  We are actually big proponents of giving patients autonomy over their testing decisions so the part that worries us is that for those that order directly, Color Genomics claims that it is a Physician ordered test.  That means, these individuals are assigned a Physician who technically is ordering the test, however, the reality is that the test ordering and process have begun prior to any real Physician interaction.  We are not as concerned about doing testing in low-risk women like many of our Cancer Colleagues because we firmly believe knowledge is power and as long as the test is recognized as being part of the educational process to making healthcare decisions then we say go for it.  However, we think that having a relationship with a health-care provider in advance of testing provides great benefit.  Testing is done for a variety of reasons and the reason and impetus for testing need to be considered both before the test is initiated and very importantly, afterwards.  Genetic testing information is very different from other physiological tests.  A calcium level is just that a calcium level that may indicate disease or health and represents a snapshot in time.  Genetic information, on the other hand, is permanent.  Knowledge gained about your risks cannot be undone.  Any Geneticist or practitioner in the field will tell you of plenty of cases, where the genetic information had adverse consequences for the individual and the family.  It can impact mental health, family dynamics and relationships and may result in significant changes in attitudes and approaches towards life.  Consequently, we always recommend having a conversation with a care provider in advance so there is a discussion about risks, the impetus for testing and what the individuals health-care goals are.

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