Archive for October, 2018

At Home Genetic Testing

Monday, October 22, 2018 // Uncategorized

What is At-Home Genetic Testing?

Understanding what an at-home test will – and will not – tell you

For a price (typically several hundred to a thousand dollars) you can order a genetic testing kit online or by phone. You’ll swab your cheek or spit into a test tube. Then you will mail it to a lab where it may be tested for a wide variety of things — from whether you inherited your intolerance to the lactose in dairy products to your risk of certain types of cancer to if you carry a gene for a serious illness such as Cystic Fibrosis and could pass it on to your children.

There are at-home tests for:

  • Traits ( e.g., male hair loss to dimples)
  • Wellness (e.g.,  risk of certain types of cancer to restless leg syndrome)
  • Ancestry reports (i.e., ethnicity and lineage)
  • Carrier status (e.g., Tay-Sachs Disease to Sickle Cell Anemia)
  • Paternity testing (i.e., determining a child’s biological father)

There are three general ways to get genetic testing:

  • Through your physician or a genetic counselor – These are the most detailed and comprehensive tests available. They include cancer testing and testing for genetic disorders.  They include large “panels,” meaning they test for the most genes.
  • Physician-ordered online testing – While you can order some of the more comprehensive tests online, you will still need a physician’s approval. In some cases, your physician can order the test. In some cases, the testing company employs a physician who can order the test for you.
  • Direct-to-consumer testingThese are the at-home tests you most often hear about. They do not require a physician’s order. However, they don’t fall under the same guidelines as the other two types of testing, and they may provide incomplete information. For example, they may not test for the genes you’re most interested in. Or they provide you raw data, but don’t provide guidance regarding the results and what they may mean for you or your family.

Before you order at-home genetic testing, it’s important to consider your goals for testing. It’s also a good idea to understand what a test may or may not tell you, how reliable the testing is, and whether you will receive any guidance to help you understand what the test restuls mean for you and your family. If you’re thinking about at-home genetic testing, consider the following.

Is the company trustworthy?

If you decide to order an online test, research the company providing the service. Verify that:

  • The lab that conducts the tests has received one of the following certifications: Clinical Laboratory Improvement Amendments (CLIA), College of American Pathologists (CAP) or AABB. The Food and Drug Administration (FDA) is still exploring how it will address genetic testing and has approved some but not all such tests.
  • The company’s staff members have received extensive education in the subject, such as being certified genetic counselors, medical geneticists, pathologists, Ph.D. geneticists, biologists or molecular pathologists.

What will the test tell you, exactly?

It’s important to fully understand the test results. You should determine:

  • Exactly what is being tested (health conditions, ancestry, traits, carrier status)
  • How the results will be provided
  • What you will do with your results, and if they will help you make health decisions
  • If you might find out information you might not be expecting
  • If you plan to share your results with your family
  • If the company will contact you if there are new scientific findings that may change your results

Will your personal information be protected?

Carefully review the testing company’s privacy and security policy. Be sure to find out:

  • What does the company plan to do with your genetic information, now and in the future?
  • Will the company share your genetic information with pharmaceutical or biotechnology companies, researchers, not-for-profit groups or public or private DNA databases?
  • Will the company let you know if its policies change, or if your information is shared?

What professional help will the company provide?

No matter the results of your test, you likely will have questions. You should find out how the company plans to answer your questions.

  • Is a genetic counselor or other trained professional available before or after testing to provide guidance and help?
  • If so, is this service included in the cost of testing, or is there an extra charge?
  • Is the professional employed by the company, or is the service separate?
  • If the company does not have trained genetic professionals on staff, can it refer you to someone?

Receiving the results may produce a variety of emotions. You may be surprised, relieved, disappointed or confused. Whether you choose at-home testing or seek out testing through a medical professional, seeing a genetic counselor can provide helpful guidance.

Wishing you good health!

Mark L. Thornton, M.D.

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High Blood Pressure

Monday, October 22, 2018 // Blood Pressure

New Multisociety Hypertension Guideline Is Released

Allan S. Brett, MD and Karol E. Watson, MD, PhD, FACC reviewing Whelton PK et al. J Am Coll Cardiol 2017 Nov 13.

The guideline lowers thresholds for categorizing people as having hypertension and for prescribing drug therapy.

Sponsoring Organizations: American College of Cardiology (ACC), American Heart Association (AHA), and nine other organizations

Target Audience: All clinicians


In 2003, the National Institutes of Health (NIH) issued its last guideline on hypertension (Seventh Joint National Committee [JNC7]; NEJM JW Gen Med Jun 15 2003 and JAMA 2003; 289:2560). In 2014, the JNC8 guideline — written by an expert panel no longer affiliated with NIH — was published (NEJM JW Gen Med Jan 15 2014 and JAMA 2014; 311:507). Now, the ACC and AHA have issued a new guideline, intended to be the U.S. standard of care.

Key Recommendations

  • Newly defined categories are “elevated blood pressure (BP)” (systolic BP, 120–129 mm Hg and diastolic BP, <80 mm Hg); stage 1 hypertension (systolic BP, 130–139 mm Hg or diastolic BP, 80–89 mm Hg), and stage 2 hypertension (systolic BP, ≥140 mm Hg or diastolic BP, ≥90 mm Hg).
  • For people with elevated BP (but not hypertension), lifestyle modification is recommended.
  • For people with stage 1 hypertension who have known atherosclerotic cardiovascular disease (CVD) or 10-year cardiovascular risk ≥10% (according to the ACC/AHA calculator, which also is used for cholesterol management), both lifestyle modification and drug therapy are recommended. Stage 1 patients with <10% 10-year risk should pursue lifestyle modification only.
  • All people with stage 2 hypertension should receive medication (in addition to lifestyle modification).
  • The treatment goal for everyone is <130/80 mm Hg.

I’m not going to change my practice until I weigh responses to this guideline from a broad range of experts. In the end, initiating drug therapy in patients with BPs near treatment thresholds should reflect shared decision-making between clinicians and patients. One of the problems with these guidelines is that they don’t age into account.  Older, stiffer arteries may be less forgiving to attempts to lower blood pressure.  The risk’s of treatments have to be weighed against the risk of side effects.

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The New Shingles Vaccine

Monday, October 22, 2018 // Uncategorized


The short version: As many of you know, a new shingles vaccine (“SHINGRIX”) was introduced in the past year, and is recommended for all adults over 50 years of age. The new vaccine is much more effective than the old vaccine (“Zostavax”). The new vaccine is associated with a higher incidence of side effects (such as pain and swelling at the injection site, or flu-like symptoms—achiness, fatigue—typically lasting a day or two after the vaccine), but because of its improved effectiveness, SHINGRIX has essentially replaced the old shingles vaccine.  More detailed information from The Medical Letter follows: 

The long version:

The FDA has approved an adjuvanted, recombinant varicella zoster virus (VZV) vaccine (Shingrix – GSK) for prevention of herpes zoster (shingles) in adults ≥50 years old. Shingrix is the second herpes zoster vaccine to be approved in the US; Zostavax, a live-attenuated VZV vaccine approved for the same indication, has been available since 2006.1,2

HERPES ZOSTER – Following primary infection, VZV persists in a latent form in sensory ganglia; VZV-specific cell-mediated immunity (CMI) prevents reactivation and multiplication of latent virus. When CMI falls below a critical threshold, as it can in older and immunocompromised persons, VZV can reactivate, causing shingles and, occasionally, postherpetic neuralgia (PHN) and other complications. About 1 million cases of shingles occur in the US each year.3,4  

ZOSTAVAX  In clinical trials, the live-attenuated vaccine significantly reduced the incidence and severity of herpes zoster and PHN in adults ≥50 years old, but its effectiveness declines sharply with age (see Table 1), and its protection against shingles wanes to 4% within 8 years after inoculation in persons vaccinated at ≥60 years old.5-9 Zostavax is contraindicated for use in immunocompromised patients and it must be frozen during storage and transport. The Advisory Committee on Immunization Practices (ACIP) recommends Zostavax only for adults ≥60 years old, even though it was approved by the FDA for use in those ≥50 years old.10

SHINGRIX  The new recombinant vaccine contains a surface VZV glycoprotein E (gE) antigen obtained from cultured, genetically engineered Chinese hamster ovary cells that triggers a targeted immune response to VZV. It also contains a liposomal adjuvant (AS01B) to enhance the immune response. Unlike ZostavaxShingrix is not contraindicated for use in immunocompromised patients and does not need to be frozen during storage and transport.

CLINICAL STUDIES – FDA approval of Shingrix was based on the results of two observer-blind trials, one in adults ≥50 years old and the other in adults ≥70 years old, in which a total of 27,922 persons were randomized to receive two doses of vaccine or placebo two months apart.11,12 The vaccine was effective in preventing herpes zoster and PHN in all age groups. Pooled results of the trials are summarized in Table 1.

The duration of protective immunity against shingles with Shingrix is unknown. In persons ≥70 years old, vaccine efficacy was 85.1% in the fourth year after vaccination.12 Immunogenicity data suggest that the protective effect of Shingrix will persist for at least 9 years after vaccination.13 The efficacy of Shingrix in persons who receive only one dose is not known. Shingrix and Zostavax have not been compared in head-to-head trials.

ADVERSE EFFECTS — Although not directly compared to one another in clinical trials, adverse reactions appear to occur more often with Shingrix than with Zostavax. Common adverse effects of the new vaccine include myalgia (45%), fatigue (45%), headache (38%), shivering (27%), fever (21%), GI symptoms (17%), and injection-site pain (78%), redness (38%), and swelling (26%). Severe local reactions preventing normal daily activities occurred in 17% of persons who received Shingrix and persisted for a mean of 2 days. Serious adverse events, including new-onset immune-mediated disease and death, occurred at similar rates in the vaccine and placebo groups. Long-term data on the safety of Shingrix are lacking.

DRUG INTERACTIONS – The efficacy of Shingrix may be reduced in patients who are receiving immunosuppressive therapy.

DOSAGE AND ADMINISTRATION – Shingrix should be given as two 0.5-mL doses administered intramuscularly 2-6 months apart. It can be given at the same time as influenza vaccine, but a different injection site should be used.

The vaccine is supplied in two single-dose vials, one containing the lyophilized antigen component and the other containing the adjuvant suspension component. Both vials should be refrigerated during storage; the vaccine should be discarded if frozen. Before administration, the antigen component must be reconstituted with the adjuvant component to form an opalescent, colorless to pale-brown liquid. The reconstituted vaccine should either be administered immediately or refrigerated and given within 6 hours. It should be discarded if it appears discolored or contains visible particulates.

NEW RECOMMENDATIONS – The ACIP now recommends that healthy adults ≥50 years old, including those who have already received Zostavax, be vaccinated with two doses of Shingrix (2-6 months apart).10 The committee voted that Shingrix is preferred over Zostavax for herpes zoster prevention. The optimal time between administration of Zostavax and vaccination with Shingrix has not been established.

Update 1/26/18: Since publication, the ACIP has recommended that Shingrix not be given <2 months after vaccination with Zostavax.14

CONCLUSION – The adjuvanted, recombinant varicella zoster virus (VZV) vaccine (Shingrix) appears to be considerably more effective than the live-attenuated VZV vaccine (Zostavax) for prevention of herpes zoster (shingles), especially in older patients. Two doses of Shingrix administered 2-6 months apart are now recommended for healthy adults ≥50 years old, including those who have previously received Zostavax. Ensuring completion of the two-dose series may be challenging, particularly in patients who experience severe adverse effects with the first dose.

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The Flu

Monday, October 22, 2018 // Flu

As most of you know the recent flu season was the worst flu season since 2009. It is now flu shot season.  When you see pumpkins, think flu shots. Patients with fall appointments will get the vaccination during their office visit.  We schedule brief appointments for individuals who want to get the vaccine to avoid waiting. We prefer not to do walk INS ins to minimize wait times. We will be giving the quadrivalent vaccine against 4 flu strains. For those over 65, a high dose vaccine is available which is a little more effective.  Let’s hope for a good match this year!

The flu takes a formidable toll each year. Researchers and health workers save lives by routinely rolling out seasonal vaccines and deploying drugs to fight the virus and its secondary infections. But in the U.S. alone the flu still kills tens of thousands of people and hospitalizes hundreds of thousands more.

A big part of the problem has been correctly predicting what strains of the influenza virus health officials should try to combat in a given season. A team of scientists from the U.S. and China now say they have designed a vaccine that could take the guesswork out of seasonal flu protection by boosting the immune system’s capacity to combat many viral strains.

The University of California, Los Angeles–led group reported in a recent Science that they may have created the “Goldilocks” of flu vaccines—one that manages to trigger a very strong immune response without making infected animals sick. And unlike current flu vaccines, the new version also fuels a strong reaction from disease-fighting white blood cells called T cells. That development is important because a T cell response will likely confer longer-term protection than current inoculations do and defend against a variety of flu strains (because T cells would be on the lookout for several different features of the flu virus whereas antibodies would be primarily focused on the shape of a specific strain). “This is really exciting,” says Kathleen Sullivan, chief of the Division of Allergy and Immunology at The Children’s Hospital of Philadelphia, who was not involved in the work.


The overall effectiveness of last season’s influenza vaccine has been estimated at 36%, according to an analysis in MMWR.

Researchers examined data on nearly 4600 patients who sought outpatient care for acute respiratory illness with cough within 7 days of symptom onset between November 2017 and February 2018. Some 38% tested positive for influenza on reverse-transcription polymerase chain reaction.

Roughly 43% of those with influenza had been vaccinated. Vaccine effectiveness was estimated for each virus type as follows:

  • Influenza A(H3N2): 25%
  • Influenza A(H1N1)pdm09: 67%
  • Influenza B: 42%

When examined by age group, statistically significant protection against influenza was observed only among children aged 6 months through 8 years (59% effective) and adults aged 18 through 49 (33% effective).

The report’s authors write, “Even with current vaccine effectiveness estimates, vaccination will still prevent influenza illness, including thousands of hospitalizations and deaths. Persons aged ≥6 months who have not yet been vaccinated this season should be vaccinated.”

Dr. Anne Schuchat noted that three out of four children who’ve died from flu this season were not vaccinated.

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15th Anniversary

Monday, October 22, 2018 // News

Happy Fall! It is hard to believe it has been 15 years since the practice opened as the first concierge/personalized care physician practice in San Antonio. At the time a patient-centered practice was controversial. A practice that restricted its size so that there was more time to spend on preventive care and access was newsworthy then, but now is more in demand than ever. It’s been incredibly rewarding to practice medicine the way that I thought I would be able to in medical school. We’ve grown, Dr. Jennifer Wallace joined the practice and we continue to treat patients with the time and expertise an Internal Medicine specialty practice offers. We look forward to practicing this way for many years to come!

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