"Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile can help doctors select the proper medication or therapy and administer it using the proper dose or regimen. Personalized medicine is being advanced through data from the Human Genome Project." -NIH
One of the biggest controversies in screening for inherited diseases with genetic testing is the lack of effective tools to help people feel empowered. People found to carry one of these genetic mutations that cause disease often felt like it was a death sentence. Even armed with the latest medications or surgeries, often they felt helpless, just waiting for the day when they got the bad news.
Thankfully that conversation is changing with genomics and Personalized Medicine. When you understand the biology and biochemistry of our bodies – and the genes that run them, it is very clear that there is much more that can be done to alter the perceived fated outcome. But the scientific studies have lagged behind – until now.
A recent study published in Nature (1) is providing support for the polygenic model of genomics. This model is an advanced application of Personalized Medicine utilizing genomics - the newer branch of genetics. Rather than the conventional single gene- single outcome model, this newer approach takes into account multiple genes involved in multiple biochemical pathways, and how small changes in these genes called single nucleotide polymorphisms (SNPs for short) each contribute to disease over time. [see: genetics vs genomics] It’s much more complicated, and as a result much harder to study. It’s also much harder to address with a single medication or the limited approach of conventional medicine.
But now that is changing. In this research study, they looked at 3 diseases with a strong genetic link: hereditary breast and ovarian cancer, familial hypercholesterolemia, and Lynch syndrome. They evaluated more than 80,000 individuals of primarily European ancestry to examine the interaction between SNPs in multiple genes in other systems (polygenic) and single gene (monogenic) mutations for these specific inherited diseases.
The study showed that there was a wide range of risk as to whether someone who carried one of these mutations actually developed the disease. The probability of disease by the age of 75 ranged from 17% to 78% for coronary artery disease; 13% to 76% for breast cancer; and 11% to 80% for colon cancer (Lynch syndrome). And the explanation was the influence of this polygenic model on the effect of the genetic mutation.
KNOWING YOUR BLUEPRINT & STRATEGIC INTERVENTION
We can potentially modify the outcome of inherited diseases by understanding the multiple biochemical pathways and mechanisms involved, along with the genes that impact them. The key is in going beyond the conventional fated model of one gene-one disease, and integrating the more advanced polygenic model.
This may make a difference as to what surveillance and intervention strategies are chosen for an individual. Perhaps equally or even more importantly, it opens up the opportunity to use a person’s genomic blueprint to be able to lower a person’s risk. By leveraging the function of these genes and their biological systems through targeted diet, lifestyle, supplement and even perhaps medication strategies, we can potentially alter the course of what was once thought to be an inevitable outcome.
Now we have the start of what promised to completely change how we approach genetic diseases, and what those of us practicing Personalized Medicine have been seeing for years in our practices - certain genetic mutations may not leave us as helpless as we thought. While there is still much scientific study that needs to be done, we have the tools and the power right now to make a difference.
References: Fahed, A.C., Wang, M., Homburger, J.R. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020). https://doi.org/10.1038/s41467-020-17374-3
There's no one-size-fits-all solution and a lot of what we're trying to do is individualize our treatments to the patient. One of the most important things I try to assess when I'm meeting a patient is to ask “what are your goals? What are your expectations? How can we meet those?” A lot of it is education to let them know what's realistic and what's not. A lot of my treatment strategies involve therapeutic exercise, engaging in physical therapy and there are different modalities even within that. There's manual therapy, there are different electrical therapies, there are ultrasound therapies to name a few. Other tools include complementary and alternative medicine and mind-body treatment which I'm a big proponent of because when you have physical issues, they can exacerbate the psychological side and vice-versa. Tools like acupuncture can be helpful for some people, but again, there isn't as I one-size-fits-all. We try to follow evidence based medicine protocols and an integrative approach.
Today, we exercise our freedom of choice to seek complete confidence in our decisions. Seeking what's right for you is just that! I support all patients to be well-informed with research and asking a lot of questions that pertain to their health and issues. Do not be swayed by pressure just because this doctor takes your insurance or the popularity of that procedure. The almighty Google is still on your side to answer any question about anything and anyone, where making an intelligent choice must be strategic and thought through.
THE SECOND OPINION
From the moment your physician calls you about a debilitating illness, that inner voice may express curiosity about what other treatment options another doctor would prescribe? You may want to get another perspective on your current diagnosis or get another set of professional eyes to review your reports. All these concerns are quite natural and common - especially when it comes to pursuing such a major commitment as cancer care. We all want to gather all the information we can from trusted sources to build an intelligent direction that gives us complete confidence and peace of mind.
To seek a SECOND OPINION is a patient's right as a cautious and educated consumer. This measure is also a smart financial coverage encouraged by insurance companies geared to prevent much higher claims from costly or 'wrongful' procedures. Whether you're searching for a primary care physician or a specialist, shopping for any doctor can be quite a challenge. Ingredients for finding a professional that you can trust with your life rely heaviest on their reputation, expertise and qualifications found under smart research methods.
REFERRALS: Though medical professionals are now participating in the commercial world of marketing (such as broadcast and podcast commercials, youtube videos, social media promotion and public relations campaigns), the largest and most popular method of deciding on a doctor is still word of mouth. At least starting with a recommendation from a friend, colleague or family member, getting positive feedback about a practitioner through others' experience is a great place to begin.
The current standard in screening for breast cancer is mammography. However, this imaging tool may miss some breast tumors, especially in women with dense breasts. Published data suggests that sonography can play an important role in detecting tumors that mammography misses. In fact, over 94% of cancers seen only on ultrasound were invasive tumors with average size of 10 mm, and in the studies where staging was detailed, 91% were node negative, meaning it had not spread and complete cure was possible due to early detection.
Power Doppler Sonography adds increased accuracy to breast imaging evaluation over ordinary ultrasound because it shows higher blood flow speeds, often a sign of cancerous activity in the breast. Studies have shown that suspicious blood flow identified by pre-surgery Power Doppler scans corresponds very well with the size, location and aggression of actual tumors that are then surgically removed. Thus, Power Doppler brings an important clinical dimension to breast cancer detection. 3D sonography clearly shows tumor margins and 3D Doppler affords an index of cancer aggression and metastatic potential.
Breast Sonograms and Ultrasound offers the following advantages:
• Highest accuracy in dense (lumpy, cystic) breasts
• Non-invasive-no radiation exposure
• Cost effective
• Can distinguish cysts (fluid-filled masses) from cancerous tumors without needle sampling
• Ease of image guidance for breast biopsy
Women who should consider ultrasound scanning of the breast include those at risk of breast cancer because of personal or family history and the presence of fibrocystic (dense) breast tissue which increases cancer risk by as much as 400%. (See complete program- LINK)
WHY CANCER COMES BACK(Source: NIH- National Cancer Institute)
When cancer comes back after treatment, doctors call it a recurrence- or recurrent cancer. Finding out that cancer has come back can cause feelings of shock, anger, sadness, and fear. But you have something now that you didn’t have before—experience. You’ve lived through cancer already and you know what to expect. Also, remember that treatments may have improved since you were first diagnosed. New drugs or methods may help with your treatment or in managing side effects. In some cases, improved treatments have helped turn cancer into a chronic disease that people can manage for many years.
Recurrent cancer starts with cancer cells that the first treatment didn’t fully remove or destroy. This doesn’t mean that the treatment you received was wrong. It just means that a small number of cancer cells survived the treatment and were too small to show up in follow-up tests. Over time, these cells grew into tumors or cancer that your doctor can now detect.
Disclaimer: The information (including, but not limited to text, graphics, images and other material) contained in this article is for informational purposes only. No material on this site is intended to be a substitute for professional medical advice or scientific claims. Furthermore, any/all contributors (both medical and non-medical) featured in this article are presenting only ANECDOTAL findings pertaining to the effects and performance of the products/technologies being reviewed - and are not offering clinical data or medical recommendations in any way. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, never disregard professional medical advice or delay in seeking it because of something you read on this page, article, blog or website. None of the information provided should be interpreted to be or is meant to be medical advice, suggestions, or counseling.
No comments:
Post a Comment