DNP 810 complex inheritance health issue
DNP 810 complex inheritance health issue
Refer to the complex inheritance health issue identified in DQ 1. Given available genetic tests, which would you use to screen and diagnose this issue? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.
Researchers are learning that nearly all conditions and diseases have a genetic component. Some disorders, such as sickle cell disease and cystic fibrosis, are caused by variants (also known as mutations) in single genes. The causes of many other disorders, however, are much more complex. Common health problems such as heart disease, type 2 diabetes, and obesity do not have a single genetic cause—they are influenced by multiple genes (polygenic) in combination with lifestyle and environmental factors, such as exercise, diet, or pollutant exposures. Conditions caused by many contributing factors are called complex or multifactorial disorders.
Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. It may be difficult to identify the role of genetics in these disorders, particularly because families often also share environments and may have similar lifestyles. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. Researchers continue to look for major contributing genes for many common, complex disorders.
What Are the Characteristics of a Multifactorial Disease?
A multifactorial disease has a combination of distinctive characteristics that can be differentiated from clear-cut Mendelian or sex-limited conditions. These traits include the following:
- The disease can occur in isolation, with affected children born to unaffected parents. Although familial aggregation is also common (i.e., there may be multiple cases in the same family), there is no clear Mendelian pattern of inheritance.
- Environmental influences can increase or decrease the risk of the disease.
- The disease occurs more frequently in one gender than in the other, but it is not a sex-limited trait. In addition, first-degreerelatives of individuals belonging to the more rarely affected gender have a higher risk of bearing the disease (International Commission on Radiological Protection, 2000).
- The concordance rates in monozygotic and dizygotic twins contradict Mendelian proportions. A concordance rate is a measure of the rate at which both twins bear a specific disease (Mossey, 1999; Griffiths et al., 1999).
- The disease occurs more frequently in a specific ethnic group (i.e., Caucasians, Africans, Asians, Hispanics, etc.).
Going back to the example of coronary artery disease, we know that there are a number of factors that increase the risk of disease onset, including obesity, type II diabetes, high blood pressure, high levels of low-density lipoprotein cholesterol, and even gum disease (Myers et al., 1990; Watkins & Farrall, 2006; Williams et al., 2008; Wilson et al., 1998). Although coronary artery disease runs in families, it does not show Mendelian inheritance patterns and can occur in isolation (Yusuf et al., 2004). Coronary artery disease also occurs more often in men than women (Zdravkovic et al., 2002), and its risk is higher among African Americans than among Caucasians or Asians (Clark & Emerole, 1995). All of these characteristics are consistent with the classification of coronary artery disease as a multifactorial disorder.
Are Multifactorial Diseases Continuous or Discontinuous?
Recall that traits that fall into discrete categories are referred to as discontinuous, while those that display a gradient of phenotypes are classified as continuous. Interestingly, there are many diseases that result from discontinuous variation that show complex phenotypes resembling continuous variation (Griffiths et al., 1999). Scientists propose that this is because there is a base of continuous variation on which the susceptibility to a disease develops. According to this theory, a disease develops and is expressed only after a certain critical liability threshold is reached. The further the liability threshold is surpassed, the more severe the disease phenotype is (Mossey, 1999). In contrast, an individual who does not reach the liability threshold will never develop the disease. Therefore, an individual either has the disease or does not, and the disease shows discontinuous variation.
An example of how the liability threshold works can be seen in individuals with cleft lip and palate. Cleft lip and palate is a birth defect in which an infant is born with unfused lip and palate tissues. An individual with cleft lip and palate can have unaffected parents who do not seem to have a family history of the disorder. Despite the fact that the child’s parents may not have the disorder, they may have contributed some underactive genes that are required for lip and palate formation. Indeed, there seems to be a genetic component to this defect, because the incidence of cleft lip and palate is higher in families with an affected child (Mossey, 1999). Additionally, some nutritional deficiencies and maternal cigarette smoking are associated with this birth defect, so environmental factors are also involved (Ericson et al., 1979; Wilcox et al., 2007). When an individual is born with cleft lip and palate, the contributing factors for this condition have surpassed the liability threshold. If the threshold is exceeded by a fair amount, the birth defect increases in severity. In these cases, it becomes more likely that other family members are also affected (Mossey, 1999). Cleft lip and palate is thus a multifactorial disorder with discontinuous variation.
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Your initial discussion post should be a minimum of 200 words and response posts should be a minimum of 150 words. Be advised that I grade based on quality and not necessarily the number of words you post. A minimum of TWO references should be used for your initial post. For your response post, you do not need references as personal experiences would count as response posts. If you however cite anything from the literature for your response post, it is required that you cite your reference. You should include a minimum of THREE references for papers in this course. Please note that references should be no more than 5 years old except recommended as a resource for the class. Furthermore, for each discussion board question, you need ONE initial substantive response and TWO substantive responses to either your classmates or your instructor for a total of THREE responses. There are TWO discussion questions each week, hence, you need a total minimum of SIX discussion posts for each week. I usually post a discussion question each week. You could also respond to these as it would count towards your required SIX discussion posts for the week.
I understand this is a lot of information to cover in 5 weeks, however, the Bible says in Philippians 4:13 that we can do all things through Christ that strengthens us. Even in times like this, we are encouraged by God’s word that we have that ability in us to succeed with His strength. I pray that each and every one of you receives strength for this course and life generally as we navigate through this pandemic that is shaking our world today. Relax and enjoy the course!
Hi Class,
Please read through the following information on writing a Discussion question response and participation posts.
Contact me if you have any questions.
Important information on Writing a Discussion Question
- Your response needs to be a minimum of 150 words (not including your list of references)
- There needs to be at least TWO references with ONE being a peer reviewed professional journal article.
- Include in-text citations in your response
- Do not include quotes—instead summarize and paraphrase the information
- Follow APA-7th edition
- Points will be deducted if the above is not followed
Participation –replies to your classmates or instructor
- A minimum of 6 responses per week, on at least 3 days of the week.
- Each response needs at least ONE reference with citations—best if it is a peer reviewed journal article
- Each response needs to be at least 75 words in length (does not include your list of references)
- Responses need to be substantive by bringing information to the discussion or further enhance the discussion. Responses of “I agree” or “great post” does not count for the word count.
- Follow APA 7th edition
- Points will be deducted if the above is not followed
- Remember to use and follow APA-7th edition for all weekly assignments, discussion questions, and participation points.
- Here are some helpful links
- Student paper example
- Citing Sources
- The Writing Center is a great resource