Category: genetic medicine clinic

BRCA Testing for Breast Cancer Awareness Month

Breast Cancer

Goal of Breast Cancer Awareness Month – Get BRCA Tested if you have a Family History of Breast or Ovarian Cancer


Breast cancer is the most common cancer in women, affecting one in eight women in their lifetime for a background population risk of 12.5%. In the US, last year, the national Cancer Institute estimated 231,840 new cases of female breast cancer. The majority of breast cancers are sporadic meaning there is not an inherited component. However 5 to 10% are due to inherited causes.

Although BRCA1 and BRCA2 were the first genes identified to be associated with this inherited risk for cancer they are only responsible for about 50% of hereditary breast cancer. However, additional genes have been discovered that are associated with increased breast cancer and ovarian cancer risk and with these other genes there is often other cancers such as pancreatic cancer, thyroid cancer or sarcoma in the family.

Genetic Cancer Risk

Indications for breast cancer testing

  • Early-onset breast cancer
  • Having a male relative with breast cancer
  • Having a history of breast and ovarian cancer in the same individual or in closely related family members
  • Multiple members of a family with breast cancer
  • Multiple members of the family with breast, uterine or thyroid cancer

Benefits of testing

Early detection improves the odds of survival


cancer survival





In addition, identifying and inherited susceptibility for certain cancers can change both screening and management of your health

  • Earlier acceptance of screening tools such as mammograms, ultrasound and MRI
  • Indication for risk reducing measures such as ovary removal after childbearing is complete
  • Identify other at risk family members
  • Consideration for medications for primary risk reduction

Expanded BRCA Test Panel – Now Available for Breast Cancer Awareness Month

Test description – our advanced BRCA panel includes BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53 and many other genes associated with the increase risk of breast and ovarian cancer. In fact the current panel consists of 30 genes and represents a comprehensive genetic analysis for hereditary cancers including breast, ovarian, colorectal, pancreatic and other cancers as well.
Testing is performed in a CLIA certified laboratory with strong performance standards showing 100% accuracy, 100% sensitivity, 100% specificity with both repeatability and reproducibility

This Expanded BRCA Panel can be ordered on our Facebook page



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:

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

Breast Cancer Risk Factors

Breast Cancer

Breast Cancer Risk Factors

We published a paper almost a decade ago in the Journal of Women’s Health which showed that most women were very INACCURATE in determining their breast cancer risk.  This conclusion was surprising because there is a wealth of information about breast cancer available on the internet, through health and medical websites and from health-care practitioners who are much more educated about Breast Cancer then they were in the past.

Why are Women mistaken about their Breast Cancer Risk?

From our study, it turns out that most women were somewhat familiar with Breast Cancer risk factors but were unable to understand how these risk factors should be weighted to determine a cumulative or combined risk.  For example, despite as strong family history of Breast Cancer (which increases breast cancer risk substantially), daily exercise was given as a reason for a woman believing her risk was minimal.  What she did not understand is that although daily exercise can reduce risk, it does not offset the tremendous increase in risk due to genetics and heredity.



List of Breast Cancer Risk Factors

Risk Factor Decreased Risk Slight Increased Risk Significant Increased Risk
First Degree Relative (Mother, Sister) with breast cacner  


Mostly Jewish Ancestry    
Height > 5’7”    
Weight gain of 20-40 lbs since starting period    
Weight gain >40lbs since starting period     ↑↑↑
Birth Weight > 8.5 lbs    
Periods starting at age 15 or greater    
Given birth to two or more children    
First child born after the age of 35      
Diagnosis of benign breast disease  
Menopause starting greater than age > 55    
Oral Contraceptive Use    
Use of Estrogen for > 5 years    
Use of Estrogen/Progesterone < 5 years    
Use of Estrogen/Progesterone >5 years     ↑↑↑
Alcohol use > 1 drink/day    
Daily Exercise > 30 min    

Tamoxifen use > 5 years


For a Comprehensive Breast Cancer Risk Assessment, CONTACT US Map: Telemedicine or Video Consultation @ CLICK HERE

Tests You should have with Alzheimer’s Disease


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


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.


Coin Shaped Rash from Fitbit Charge

Dermatitis from FitbitNummular Dermatitis: A Coin Shaped Rash from Fitbit Charge

We often see patients for non-genetic related issues.  This week we had a patient with this rash.  He has been wearing a Fitbit Charge for approximately 1 month.  This rash appeared on the inside of his wrist and was incredibly pruritic (itchy).

He was diagnosed with Nummular (Circular) Dermatitis.

Nummular means “coin-shaped” and this rash is in the eczema family.  These round to oval, often raised, reddish lesions usually occur on the arms and legs.  They can scale after a time and may have smaller bumps or vesicles that can rupture and secrete a clear liquid.

The cause is not absolutely established but is often associated with dryness of the skin often worsened by abrasion and exposure to an external antigen.  In this case, he wore his Fitbit contstantly including during exercise.  The combination of constant friction to that area, combined with sweat and the lack of cleaning of the Fitbit likely set up the conditions for his rash or dermatitis.

Although, he did not previously have an allergy to nickel or other metals, the fact the lesion was over the metal clasp of the Fitbit was suggestive.

The Treatment

The Coin-Shaped Rash or Nummular Dermatitis responded well to topical hydrocortisone and topical Benadryl (for itching). He was asked to move his Fitbit to the other arm.  He wanted to continue to wear it so he was advised to apply some type of barrier cream to the region where he was going to wear it.  We suggested Aquaphor.

After 1 month, he was able to move his Fitbit back to his left wrist.  He cleaned his Fitbit regularly.  In addition, he would take breaks from wearing it so it was not constantly on his hand.  He applied Aquaphor to his wrist twice a day and cleaned his wrist after any significant exercise with repeat application of the Aquaphor.  He also started to use a regular moisturizer on his entire forearm surface.  The rash did not re-occur.

Importantly, Aquaphor did not impair the functionality of his Fitbit.



3 Ways to Boost Your Fertility


If you are trying to get pregnant then you will be given a lot of advice about what to take and not take, what your ideal weight should be and on and on…

Here are a couple of other pointers for you to consider:

Avoid strenuous exercise – Exercise is good for fertility.  But like everything else in life, the secret is moderation especially in pregnancy.  A Danish study examining athletes who did strenuous workouts for 5 hours each week took longer to get pregnant.

Watch Our for High Mercury Fish in your Diet – Tuna being the most common offender in this category.  Mercury has been associated with decreased fertility in a number of studies

Get your Sleep – Sleep is important for conception.  Melatonin levels can impact ovulation.  It is important for women to get at least 8 hours a day.


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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