genetic testing

Belated Medical Monday: Breaking News from the World of Obstetrics and Gynecology

Actual patient care through the weekend prevented a timely publication of Medical Monday. Thanks for your patience ! 

The health care sector’s initial responses to the Trump administration’s approach to health care policy ranged from shock to anger. Now people and corporations are starting to take action, especially in the face of the administration’s disarray and impotence. 

Sister comforting to a pregnant sad teen.jpg

The Trump administration through the Department of Health and Human Services slashed $200 million from the Teen Pregnancy and Prevention Program. (Can anybody tell me the process that made this possible, or does the President just decide like a dictator ? ) The spokesperson of the National Campaign to Prevent Teen and Unplanned Pregnancy has spoken out and disputed the administration’s position which stated that there is “ very weak evidence of positive impact of these programs. “  Experts everywhere are dismayed since the programs are believed to have produced a 41% drop in the teen pregnancy rate since 2010. The CDC (Centers for Disease Control) and ACOG ( American College of Obstetricians and Gynecologists) both credit the declining teen birth rate to these programs. 

The Trump administration is bit by bit, trying to dismantle the ACA’s protections on reproductive health care. Most recently, the contraceptive mandate for employer sponsored programs is on the chopping block. ACOG has stated that the contraceptive mandate has driven the unintended pregnancy rate to a 30 year low, and eliminating this feature would be a threat to public health. 

The Trump administration has indicated its support for abstinence only sex education, which has no evidence to support its efficacy. However, the CDC has produced two meta-analyses which indicate that comprehensive sex education results in reduced overall levels of sexual activity and increased levels of protection among those that are sexually active. 

Indiana law classified the use of aborted fetal tissue as a felony. A group of Indiana researchers has challenged this legislation with a federal lawsuit. The group bringing the suit is from the National Institute of Health funded Alzheimers Disease Center where they do study brain tissue from aborted fetuses. 

A recent article in the Dallas Morning News has highlighted the new voice of corporate American in social policy. Corporate America needs a diverse and inclusive workforce, and it understand that inclusiveness is good for business. Accordingly, it has begun to stand up for diversity. From various quarters, highly placed business leaders have spoken out and defied the current administration’s divisive policies. Recent examples of these divisive policies and positions include the President’s reaction to the Charlottesville violence, as well as recent controversy regarding LGBT rights, i.e. the so-called bathroom bill. 

The writer of the Dallas Morning News editorial, Dr. Daniel Grossman of the Department of Obstetrics and Gynecology University of California, San Francisco, has called upon the business community to begin speaking out on women’s reproductive rights as well. He cites the fact that fully 70% of Americans support women’s access to full reproductive services including abortion, and this is also the position of the American College of Obstetrics and Gynecology and the American Medical Association. A broad based field of research has shown time and again that access to comprehensive and affordable reproductive health care for women leads to better health, higher levels of educational attainment, and improved economic stability for women, families and society at large. To learn more see https://www.ansirh.org, Advancing New Standards in Reproductive Heath, a division of the UCSF Bixby Center for Global Reproductive Health, http://bixbycenter.ucsf.edu

As mentioned in several past posts, States are starting to take matters into their own hands. They are, on their own State legislative calendars, enacting various bills that safeguard the requirements for insurance to cover various benefits such as birth control or prenatal care. The latest is Arkansas, which has passed a law which will require insurers in the State to cover indicated mammograms. 

In the good news department, we have word that there are bipartisan meetings planned in the first part of September, which will include Governors as well as State Insurance Commissioners. The goal of the meetings will be to stabilize existing insurance markets under the ACA. Things may actually start to get real. 

In medical news, the truth is starting to come out, as truth eventually does. New data published in a recent study shows that yearly mammograms starting at 40 (rather than every other year at 50) would prevent the most deaths due to breast cancer. According to this study out of Cornell and New York Presbyterian, for those aged 40-80, screening at 40 reduces breast cancer deaths by 40 % beyond current protocols. Those who read this column regularly already know that a whole segment of the health care world including ACOG, the American Cancer Society and the American College of Breast Surgeons among others, have always taken this view. They have taken serious issue with the short sighted recommendations of the US Preventive Services Task Force (USPTF) which has taken the position that mammograms in the 40s confer no benefit. 

All parties concerned recognize that this earlier and more frequent approach mammograms produces a higher number of false positives. However, actual clinicians ( doctors, nurses and nurse practitioners who see patients) do not take the position of the USPSTF(statisticians and epidemiologists largely)  that fear of mammograms, pain of mammograms, breast biopsies with benign results constituting a false positive, or even infected or bruised breast biopsies compare with a breast cancer death as a harm. In fact no number of these types of “harms” could ever add up to even one breast cancer death. 

The next item is in both the good news department and the we-already-knew-this department. A recent analysis published in the journal Menopause has indicated that vaginal estrogen does NOT confer increased cardiovascular risk. Vaginal estrogen does not appreciably enter systemic circulation. It stays local to the vagina, and does its job to relieve postmenopausal vaginal dryness. Vaginal estrogen was found to NOT increase risk for breast cancer or for any of these: colon cancer, uterus cancer, stroke, clots in the lung (pulmonary embolus) or deep vein thrombosis. Sheepish gynecologists should prescribe with confidence. 

Sleeping baby.jpg

A concerning new report published in the journal Pediatrics has brought to light that less than half of new moms are consistently putting their babies on their backs to sleep. Not doing so raises the risk of SIDS (sudden infant death syndrome). Three quarters state they “ usually" do so. Current guidelines clearly state that babies should be in their parents room, in their own bed, and on their back to sleep for the first six months of their life. 

Breast and ovarian cancer patients are not getting genetic testing at adequate rates. Genetic testing for these patients informs the care of their children. Moreover, it can also provide insight into their own treatment. Finally, it may ultimately provide information that could help us screen for and treat cancer in new and better ways. I look forward to the day when disease is understood and treated at a genetic level. To get there, we must as a society, contribute our personal genetic information in a meaningful way. 

That’s it for this week; Stay tuned next week for more news from the exciting world of Obstetrics and Gynecology. 

Belated Medical Monday: Breaking News from the World of Obstetrics and Gynecology

By now the whole world knows that Trumpcare version 1.0, the American Healthcare Act (ACHA) has failed. For now, Obamacare, the Affordable Care Act (ACA), remains the law of the land.

This last Friday, the ACHA bill went to the floor of the House for a vote. However, all day negotiations proved fruitless to bring over Democrats or close the deep divisions between House Republicans. House Republicans broke rank with the President, but did so in two camps. First those on the far right “ The Freedom Caucus”, withdrew support because they felt the bill was still too costly and still too much like Obamacare. Moderate Republicans withdrew support because the ACHA gutted federally funded Medicaid and is widely believed to lead to the loss of insurance for a great many people, putting that burden on the States. Paul Ryan, recognizing the tally, pulled the bill before the vote. 

House Speaker Paul Ryan has indicated the GOP will keep working on heath care. One little publicized option is for the Whitehouse to sue to stop the Fed from paying insurers for work done under the Affordable Care Act. This tact was going on before the ACHA was brought to the House. Their argument is that these contractual payments from the Fed to insurance are invalid and illegal. 

One of Trump’s major campaign promises was to reform healthcare, indeed to provide “universal coverage”. Progressives favoring Universal Coverage may attempt an uneasy alliance in the service of this goal. Senator Bernie Sanders plans to unveil such a proposal entitled “ Medicare for All “. 

Policy news is moving at light speed and I recommend everyone start reading it from various reliable sources. I also recommend people familiarize themselves with their elected representatives and give them and their staff regular meaningful input. 

On to actual medicine. 

A new study from the Journal of the Academy of Nutrition and Dietetics indicates that most American women do not eat a healthy diet when they are pregnant. This is something we see in clinic on a regular basis. It is worth noting however the many women believe that they are eating healthy diet, even though they are not. These are well-intentioned people who have been taken in by advertising or who are victims of their busy schedules. Unless the physician or nurse midwife takes a detailed dietary history they will not know how their patient is really eating. Merely asking the person whether or not they eat healthy is not enough. People generally say they eat healthy and people generally say they are active or fit. That is because they believe it to be the case. Until people have objective definitions in front of them they cannot reliably answer these questions. Doctors take important shortcuts if they do not delve into a reasonable amount of history taking detail. When patients get specific explanations of exactly what we mean when we say "eat healthy", they're much more likely to do so. One of the problems of course, is that many doctors do not know precisely what it means to "eat healthy”. 

Four prior commissioners of the Food and Drug Administration (FDA) have produced a joint letter warning Congress about the legalization of importing drugs from other countries. Certain members of Congress have indicated that they would support this in an effort to reduce drug costs. In particular, the commissioners emeriti have warned against counterfeit, substandard and contaminated medications, since standards from other countries may not be adequate.

Pregnant women with HIV have a better chance than ever of avoiding transmission of their virus to their children. Preventive treatment including retroviral drugs given in pregnancy account for this progress.

In other viral news, a new gel treatment for genital and perianal warts is under study. These are caused by the human papilloma virus. The treatment is based on nitric oxide. Stay tuned for more on this nascent therapy.

Also regarding human papilloma virus, the American Society of Clinical Oncology has issued global statement regarding the primary prevention of cervical cancer. They recommend that all girls ages 9 to 14 receive two doses of the human papilloma virus vaccine also known as Gardisil. In the last few years there has been definitive evidence that Pap smears combined with this vaccination reduced the incidence of cervical cancer. The vaccine is also available for boys of the same age group.

Yet another study has demonstrated that exercise during pregnancy is safe and beneficial. This most recent study published in the Journal of the American Medical Association is meta-analysis of studies with more than twenty five hundred pregnant women. This is in line with ACOG (American College of Obstetricians and Gynecologists) recommendations which indicate "women without major medical or obstetric complication should get at least 20 to 30 minutes of moderate intensity aerobic exercise… on most days of the week."

In the concerning department, the FDA (Food and Drug Administration) has now linked anaplastic large cell lymphoma (ALCL)  to breast implants. This disease is a rare malignancy in the immune system which is statistically linked to breast implants, particularly those which have a rough versus smooth surfaces. The FDA has issued a statement indicating that women with breast implants have a very low but increased risk of developing ALCL compared to those who do not have breast implants. It is worth remembering that a statistical link does not prove causality. Concerned patients should speak to their plastic surgeon about this matter.

In other cancer news,  new research indicates that breast cancer gene testing is underutilized in America. A simple history in the caregiver’s office can identify whether or not a patient is at high risk of having abnormal genes, i.e. breast cancer gene mutation, or BRCA. Women with two first degree relatives such as a mother or sister are at high risk for having an abnormal gene and should explore the possibility of testing. Those patients with close relatives with any cancer should make sure their caregiver is aware of it. 

New research coming out of the Cancer Genome Atlas Project and the Cancer Research UK Database have indicated that only about a third of cancers are due to a special inherited genetic mutation. This means that two thirds of cancer-causing mutations arise spontaneously and are not able to be inherited by one's children.

environment_reduce.jpg

We conclude with the good news department. A new device called the Alexis retractor is being tested across the world. Preliminary indications in Europe show reduced infection rates and reduced post operative pain after Cesarean section. 

Finally, many States are following another European lead and introducing baby boxes. Currently Americans put their newborn babies to bed in a wide variety of ways. However, clear research shows that the incidence of SIDS (sudden infant death syndrome) can be significantly reduced if babies are placed on a flat surface on their backs, head uncovered, in a special sleep sac or a one piece sleeper, and WITHOUT any blankets, swaddling, bumpers, padding or or toys. The sheet on the firm mattress should be fitted. The baby box programs are designed to provide all this teaching as well as an actual  baby box and mattress. For those who are not aware, the baby sacs are like insulated zip overalls with a closed bottom, which allow babies to move. They are not to be confused with swaddle wraps, which are also associated with SIDS. Babies typically wear a shirt and a diaper with it. Very cute inexpensive ones can be obtained at Ikea, Target and online. 

Here is an authoritative link from the NIH for those who want to learn more: 

https://www.nichd.nih.gov/sts/about/environment/Pages/look.aspx

Our photo for today's post was brazenly lifted from the pages of the National Institute of Health linked above. 

Stay tuned next week for more breaking news from the world of Obstetrics and Gynecology.

Wellness Wednesday: DNA testing

Your DNA is the code to your programming. It is literally your genetic code. It determines your physical makeup, from appearance, to reproductive potential, to disease states. It may also determine certain hardwired aspects of temperament and cognition. Wouldn’t such information be useful for maintaining health and curing disease ? The answer is of course yes. However, the science of the use of DNA for medical purposes is still in its adolescence if not its childhood. 

DNA (deoxyribonucleic acid) is made like a set of modular children’s toys, K’nex for example. The subunit is a pair of tiny molecules called bases which bind to one another to make a base pair. These are held in a long structure like rungs on a ladder, and this ladder itself bunches and curls depending on the particular molecular sequence of base pairs. A certain series of base pairs codes is a gene for the manufacture of a certain animo acid, and strings of amnio acids are the proteins of which we are made. One famous gene mutation is BRCA, which allows breast and ovary cancers to form much more easily. Another is the gene for ALS ( Amyotrophic Lateral Sclerosis) or Lou Gehrig’s disease, which afflicts Stephen Hawking. 

DNA contains the keys not just to disease, but to health as well. Understanding DNA can help us understand any inborn vulnerabilities to disease in time to take action against them. Understanding which genes go with which diseases may help us come to understand how diseases are caused, and thus, how to cure or mitigate them. The vast majority of human genetic material, also called the human genome, is not understood. However we all have DNA, and we all have a health history, even if all that it says is that we are healthy.  Just think: If we had lots of people record their health history, and the same large number of people sequence their genome, we could use modern computing power to look for patterns between the clinical histories and the DNA. 

DNA tests are now sold direct to consumer (DTC). People are using them to search for their ethnic heritage. This is an imperfect science, and it can only narrow it down to a continent level. Some people use DNA tests to find long lost relatives, but results depend on your long lost relatives having been tested as well. 

I have been thinking about giving my family members the gift of DNA testing. My initial thought was simply to throw our data into the big pool, and add to the collective accumulating accuracy of DNA and disease correlation. It was also my hope that in the process, it would be useful in the future, when hopefully, health enhancing measures could be taken based on a person’s specific DNA profile. 

There is another kind of DNA testing which I should mention for completeness. It is testing for specific genes, and not just testing to view the whole genetic code. Physicians and researchers test for specific genes when a person’s family history is strong for a certain disease process, say colon cancer. If the unaffected relative tests positive for the risky gene, preventive measures may be able to be implement to help them avoid the disease. Genetic tests can also be done on tumor cells themselves to determine what treatment is the absolute most targeted for the specific tumor cell type. This is becoming the norm when treating breast cancer. This helps both improvement in outcomes and decreases side effects of treatments not likely to be helpful. 

In doing the research for this post, I have discovered some good advice. First, it is important to think about why you want this information. Do you really want to know about long lost relatives ? Do you really want to know your ethnicity ? What if it is not as you expected ? What if you discover a gene for a bad disease that you do not already have ? 

There are several companies that do DTC DNA testing. I found a good chart which details some of the differences. 

 

http://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart

 

Some systems of testing, analyzing and reporting are better for genealogy, and some are better for medical care, and still others are best for research. Some tests go deeper, and research paternal or maternal family lines, but this requires analysis of the X and Y sex chromosomes, rather that just the autosomal chromosomes. 

All of the tests are expensive, ranging from $79 to over three hundred. My research has raised more questions that it has answers. I plan to speak to our genetics counselors at our hospital to see what they think and I will get back to you about what they say. 

Meanwhile, it is Thanksgiving week. It is a good time to think about being grateful for what you are and what you have in the present. You may be coded by genes, but that is not the whole story. Our genes are not a static set of molecules. Instead, they switch on and off like the holiday lights that people are putting up this season. Additionally, a lot of this gene regulation depends on lifestyle choices. This is where we can leverage our health habits to make the most of the genetic cards we have been dealt. 

Happy Thanksgiving 

 

More reading: 

http://www.legalgenealogist.com/2015/02/02/2015-most-bang-for-the-dna-buck/