Saturday, June 2, 2018

Life with Chronic Conditions: Ethnicity, Ancestry, Sex and Gender Makes a Difference

Recently Geisinger Health System announced that it will be offering DNA sequencing to its patients, looking for gene mutations in at least 77 genes. Using this information, clinicians can tell whether a patient is more at risk for heart disease, a particular type of cancer or another condition. Routine DNA Screening Moves Into Primary Care 

23andMe  has been offering genetic testing since 2006  but have re branded their services to focus on ancestry services with the health information as a combined package.

The idea of knowing you have genetic markers for a specific condition can be very unsettling, since just having a gene doesn’t mean you’ll go on to develop it. So is Geisinger and 23andMe helping or making people unnecessarily alarmed? Geisinger has stated they will only provide information for genetic markers that patients can do something about.

Ancestry alone can offer some genetic clues. For example Asheknai Jews are genetically at higher risk for Tay-Sachs Disease; Asians and Hispanics are at greater risk for thalassemia; Caucasians have a higher incidence of cystic fibrosis; and African Americans have a higher risk of sickle cell anemia. Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women during their childbearing years, and is more common in African-American, Native American and Hispanic patients.

In the United States, race and ancestry are often confused, as skin color is used in place of a genetic understanding of what a person’s actual genetic ancestry might be. For example, many identify as “black,” but their genetic profile may have more European ancestry than African. Interestingly, among Americans of African descent, even though 95% will be of West African origin, within that population there is far greater genetic variation than among Europeans. Untangling Race and Health Risks Through Genetics

Ethnicity is another important variable. While ancestry relates to your actual genetic make up, ethnicity refers to  culture, customs and often lifestyle choices. Diet can vary drastically among cultures, which can have a marked impact on health. For example, many Hindus and Buddhists are vegetarians while fasting is part of various religious groups including Muslims who do not eat food during the day light hours of Ramadan. How one dresses can even have an impact. In Northern hemisphere climates, cultures that require full coverage dress can result in vitamin D deficiency.

For centuries, health research has been heavily male focused. Even in health research male animals can outnumber the females nearly sixfold. Needless to say, this is a problem as men and women can present differently with the same diagnosis, and respond differently to medications and treatments.

Not only does weight differ between men and women, but other factors such as body fat and hormones makes a difference. Certain drugs, such as antidepressants, are “fat soluble,” meaning that they dissolve in fat before going to the brain. Given women’s naturally higher level of body fat then men, the drug is distributed differently in women then men.

Heart medications affect women differently than men. Women tend to have a greater potential for bleeding so the recommendation for low dose aspirin to reduce the risk of a heart attack is not necessarily recommended. The blood thinner warfarin, used to prevent strokes and blood clots is one example where smaller doses are recommended for women than men. In 2013, the FDA issued new dosage requirements based on sex, for Ambien and Sublinox since women metabolize the drug much slower then men.

Interestingly gender is linked to sex, but not defined by it. Yet, it affects health.

For example, a 2016 study from a group of Canadian researchers suggested that successful recovery from acute coronary syndrome (a term describing a blockage of blood flow to the heart, as happens during a heart attack) was dependent not on whether the patient was male or female, but rather, on each person’s gender characteristics: Patients with more traditionally feminine traits, such as responsibility for caregiving, were more likely than those with more traditionally masculine traits, such as being the primary income earner for their households, to suffer another coronary episode or die within the following year, regardless of their biological sex. Of Mice,Men and Women 

Understanding that ancestry, ethnicity, gender and sex can all make a difference in your medical condition is important. Consider the Following:
• Genes can be turned on and off by our environment (e.g. food, supplements, geography, exercise). Just because you carry a gene doesn’t mean you’ll develop a condition.

• Develop your family health history, which includes ancestry and ethnicity.  It may not be apparent to your provider what your ancestry or ethnicity might be so be sure to let them know.

• If you’re part of a group with a higher genetic risk, you often can reduce that risk by making better lifestyle choices.

• Pharmacogenetics is a new field of understanding how genetics impacts your reaction to medication. Based on your DNA, it’s possible to know what your body can tolerate. If you are having problems with medication, it might be worth having this test. Talked to your provider about whether this testing would be beneficial for you.

•  When reading health studies, understand the make up of the study population. It may not be as relevant as you first think.

• Precision Medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people.

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