•Describe how you see genetics playing a role as you see patients in your first clinical rotation, which will be primary care settings for all students.
•Pose one question to your discussion group related to your readings or the webinar.
Outstanding/distinguished. Accurately addresses questions. Thoughtful and astutely analytic or original; connect to previous or current content or real life situations; fully develop ideas, connections, or applications; and virtually free of grammatical errors or typos. The post will facilitate learning for your fellow students. This corresponds to an A.
•As evidenced by the webinars presented by the American Academy of Pediatrics, genetics and genomics are continuing to have a more prominent role in health care today. Of particular interest is the role of genetics in primary care.Its interesting that 100% of pediatric primary care providers felt that taking a family health history is important but only 32% obtained the recommended three-generation family history (American Academy of Pediatrics [AAP], 2016a). To me, this demonstrates a need for education on what a health history should include and what sort of DNA testing should accompany certain findings. Obtaining an accurate and thorough family health history is a crucial component of genetic medicine. The family health history helps providers identify hereditary disorders, determine inheritance patterns, determine recurrence risks, identify at-risk individuals and identify individuals who are not at risk (AAP, 2016b). As a nurse practitioner student, I will have the opportunity to accompany my preceptor in obtaining an accurate health history. It will be important for me to understand the critical components of the health history and when to relay this information to my preceptor. A thorough family health history can improve, prevent or delay many adverse outcomes for patients (AAP, 2016b). For example, according to a 2007 census birth defects alone accounted for 21% of all infant deaths in the United States (Newborn screening and the era of medical genomics, 2015). This shows how important obtaining a newborn screen is and the importance of genetic testing. I also found it interesting that in one hospital in Cleveland 71% of the 4224 kids admitted to the hospital had a disorder of genetic causality or susceptibly (Newborn screening and the era of medical genomics, 2015). These statistics demonstrates the importance of genetic testing and the role it can play in preventing many adverse outcomes.
While most clinicians recognize the importance of obtaining an accurate family health history, there is a reason why it is often difficult to obtain. Some of the barriers to obtaining a complete family health history include a lack of time, incomplete records, inaccessible family members, incorrect or vague diagnosis, fear of discrimination/stigmatization and multiple caretakers for children (AAP, 2016b). These are just a few of the barriers and there are many more out there. As a nurse practitioner student, not only to be responsible for obtaining a complete history, but I will also be responsible for educating my patients. The educational component is very important. There are many myths out there about genetic testing, and as a practitioner I will need to be educated about these myths and be able to answer many general questions about genetic testing. Some myths that are out there about genetic testing are that it only screens for rare diseases, insurance does not pay for it, that genetic testing leads to discriminations and that genetic disorders are not treatable (AAP, 2016a). A significant number of individuals believe these myths, and it is the practitioner’s job to educate these patients about the facts and dispel any myths.
Overall, we can all agree that genetics will continue to play a more prominent role in primary care in the coming years. According to the Journal of General Internal Medicine, more than 540 genetic tests are presently available to clinicians and an additional 350 are currently under development (Rich et al., 2004). It is important that as practitioners we have a basic understanding about how to screen for and diagnosis these types of diseases. Being comfortable with genetic testing and obtaining an accurate family history could make a huge impact and help to prevent many adverse outcomes for patients. I am excited to head into clinicals knowing what an impact I can make on someone’s life just by being educated enough to obtain a thorough family health history!
My question for the discussion group is…
American Academy of Pediatrics. (2016a). Integrating genetics into primary care: why does it matter. Genetics in Primary Care Institute. Retrieved fromhttps://geneticsinprimarycare.aap.org/Provider%20Education/Pages/gpci-webinars.aspx#jump-2.(Links to an external site.)
American Academy of Pediatrics. (2016b). Building an accurate family history, constructing a pedigree: an overview for primary care. Genetics in Primary Care Institute. Retrieved fromhttps://geneticsinprimarycare.aap.org/Provider%20Education/Pages/gpci-webinars.aspx#jump-2.(Links to an external site.)
Newborn screening and the era of medical genomics. (2015). Seminars in Perinatology, 39(8), 617-622 6p. doi:10.1053/j.semperi.2015.09.010.
Rich, E. C., Burke, W., Heaton, C. J., Haga, S., Pinsky, L., Short, M. P., & Acheson, L. (2004). Reconsidering the family history in primary care. Journal of General Internal Medicine, 19(3), 273-280.
• This topic takes on a very personal aspect for me. Rare condition called Multiple Epiphyseal Dysplasia (MED). This is a progressive joint disease that involves abnormal development of the bone and cartilage of the epiphyses. Onset occurs in early childhood in which children will experience early onset joint inflammation, loss of motion, contractures, pain, and stiffness that can turn into chronic arthralgia. The most severe types involve progressive joint damage which ultimately leads to disability and joint replacement in the third or 4th decade of life (Stanton & Rogers, 2015). As Chen and Saul (2013) explained, not all autosomal dominant diseases affect people the same. Two out of my three brothers also have this disease, but they were only mildly effected. At the time nobody could figure out why.Perhaps if genetic testing had been done at that time it might have changed the course of our children’s lives. None of my 7 nieces or nephews have MED but my oldest son does. He also has Autism—something there is also no history of anywhere in our families
This is why building a family history is so important. In fact, it is so important that genetic research and configuration of human genomes is starting to slowly make its way to the forefront of primary care. There is an enormous shortage of geneticists available and primary care providers (PCPs) need to have a knowledge base in genetics and genomics (Gelesky and Korf 2012). Many PCPs have needed to become familiar with newborn metabolic screenings. The importance of diagnosing an infant with PKU can mean the difference between a normal life or living with a severe developmental disability (Genetics, 2012). However, taking a complete family history going back at least 3 generations is going to need to be a component of even just the routine checkup. Regular implementation of screening tools such as SCREEN can be integrated into family history to explore concerns and determine if genetic testing is warranted (Chen and Saul, 2013).
Thanks to array comparative genomic hybridization testing, discovering genetic anomalies has become more easily accessible and less expensive. In fact, many insurances will now pay for it so we may be seeing this in our preceptor clinics. Having early access to this information can plot the course for ongoing treatment, anticipatory guidance and establishing a medical home for the patient. During my clinicals and later in my own practice these things will be vital in building the patient’s trust (Gelesky and Korf, 2012).We are taking our son for genetic testing in October (yes, that is a 10-month wait). We don’t have expectations that at this point they will be able to cure his MED or his Autism, but we hope for some anticipatory guidance. Perhaps one day there will be a treatment/cure for both.
The question I pose to you all is this: Genetic testing is not only being done to determine disease but also how people respond to medications. Do you feel that PCPs would be acting negligently if they did not utilize genetic testing when indicated?
Chen, E., & Saul, B. (2013). GPCI Webinars. Retrieved January 24, 2016, fromhttps://geneticsinprimarycare.aap.org/Provider Education/Pages/gpci-webinars.aspx
Geleske, T., Korf, B. (2012). GPCI Webinars. Retrieved January 24, 2016, fromhttps://geneticsinprimarycare.aap.org/Provider Education/Pages/gpci-webinars.aspx (Links to an external site.)
Genetics Home Reference. Phenylketonuria. (2012, February). Retrieved January 27, 2016, fromhttps://ghr.nlm.nih.gov/condition/phenylketonuria (Links to an external site.)
Stanton, R. P., MD, & Rogers, R., MD. (2015). Dominant Multiple Epiphyseal Dysplasia. Retrieved January 27, 2016, from https://rarediseases.org/rare-diseases/dominant-multiple-epiphyseal-dysplasia/
• The two videos influence my practice and cause me to become more aware of the role genetics will play into a patient’s care plan. It is no doubt that genetics will have an influential role, but the video has proven how genetics will uniquely influence my own practice. High importance is placed on the family health history, which is a major task (Geleske & Korf, 2012). It is important to know how well educated the patient population is about the significance of a family history, and even though 96% of Americans know obtaining a family health history is essential, only 33% report knowing their comprehensive family health history (Chen & Saul, n.d.). This leads a healthcare professional to realize that most patients are unaware of their family health history. It may be necessary to have easily accessible tools to patients in order to allow more families to collect this data. The US Surgeon General proclaims Thanksgiving as National Family Health History Day (Genetic Alliance, n.d.). It is imperative for healthcare professionals to be aware of this opportunity to share this information with patients and families in order to spread awareness. A common misconception regarding the importance of obtaining a comprehensive is that only 32% of healthcare professionals are obtaining a 3-pedigree family health history, but 100% of healthcare professionals know how important a family health history is (Geleske & Korf, 2012). Efforts are necessary to make sure that all healthcare professionals are obtaining a comprehensive family health history while also understanding the significance surrounding the valuable data (Geleske & Korf, 2012). A surprising 20% of infant deaths are related to genetics and could most likely have been prevented with the information of an up to date family health history (Chen & Saul,n.d.). This fact alone exemplifies the prominence of knowing this data not only for the healthcare professional, but also for the patient and family.
The reasoning behind a 3-pedigree family health history is not to just take time away from healthcare professional. The data collected can recognize hereditary disorders, establish inheritance patterns, determine recurrence risks, categorize at-risk individuals and also can pinpoint individuals not at risk (Chen & Saul, n.d.). The data also allows healthcare professionals to place individuals into low risk, moderate risk and high-risk categories (Chen & Saul, n.d.). By knowing this information as a healthcare professional, high-risk individuals for genetic illnesses may be able to have improved, postponed or avoided adverse outcomes (Chen & Saul, n.d.).
How can we as students and future Family Nurse Practitioners make sure to effectively spread awareness about National Family Health History day on Thanksgiving? The rising importance surrounding this topic is made crystal clear throughout the modules. If we start with completing family health histories meticulously and correctly, the effect it will have on genetics and genomics will positively impact and grow the role of genetics in health care.
Chen, E., & Saul, B. (n.d.). GPCI Webinars. Retrieved January 24, 2016, fromhttps://geneticsinprimarycare.aap.org/Provider Education/Pages/gpci-webinars.aspx
Geleske, T., Korf, B. (2012). GPCI Webinars. Retrieved January 24, 2016, fromhttps://geneticsinprimarycare.aap.org/Provider Education/Pages/gpci-webinars.aspx
Genetic Alliance. (n.d.). Family Health History. Retrieved January 24, 2016, fromhttps://geneticalliance.org/programs/genesinlife/fhh
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