NURS-4211 Population Cultural Considerations and Genetic Predispositions

NURS-4211 Population Cultural Considerations and Genetic Predispositions

Population Cultural Considerations and Genetic Predispositions

This week, you will identify any genetic predisposition your chosen population has to a particular disease and develop primary practice interventions that reflect the cultural considerations of the population. Then, you will develop culturally appropriate, measureable interventions to help your population members maintain an optimal state of health, avoiding the problem that you identified them being at risk for developing.

For more than 100 years, human geneticists have been studying how variations in genes contribute to variations in disease risk. These studies have taken two approaches. The first approach focuses on identifying the individual genes with variations that give rise to simple Mendelian patterns of disease inheritance (e.g., autosomal dominant, autosomal recessive, and X-linked) (see Table 3-1; Mendelian Inheritance in Man). The second approach seeks to understand the genetic susceptibility to disease as the con sequence of the joint effects of many genes. Each of these approaches will be discussed below.

TABLE 3-1

Online Mendelian Inheritance in Man (OMIM) Statistics (as of May 15, 2006), Number of Entries.
In general, diseases with simple Mendelian patterns of inheritance tend to be relatively uncommon or frequently rare, with early ages of onset, such as phenylketonuria, sickle cell anemia, Tay-Sachs disease, and cystic fibrosis. In addition, some of these genes have been associated with extreme forms of common diseases, such as familial hypercholesterolemia, which is caused by mutations in the low-density lipoprotein (LDL) receptor that predispose individuals to early onset of heart disease (Brown and Goldstein, 1981).

Another example of Mendelian inheritance is familial forms of breast cancer associated with mutations in the BRCA1 and BRCA2 genes that predispose women to early onset breast cancer and often ovarian cancer. The genes identified have mutations that often are highly penetrant—that is, the probability of developing the disease in someone carrying the disease susceptibility genotype is relatively high (greater than 50 percent). These genetic diseases often exhibit a genetic phenomenon known as allelic heterogeneity, in which multiple mutations within the same gene (i.e., alleles) are found to be associated with the same disease. This allelic heterogeneity often is population specific and can represent the unique demographic and mutational history of the population.

In some cases, genetic diseases also are associated with locus heterogeneity, meaning that a deleterious mutation in any one of several genes can give rise to an increased risk of the disease. This is a finding common to many human diseases including Alzheimer’s disease and polycystic kidney disease. Both allelic heterogeneity and locus heterogeneity are sources of variation in these disease phenotypes since they can have varying effects on the disease initiation, progression, and clinical severity.

Environmental factors also vary across individuals and the combined effect of environmental and genetic heterogeneity is etiologic heterogeneity. Etiologic heterogeneity refers to a phenomenon that occurs in the general population when multiple groups of disease cases, such as breast cancer clusters, exhibit similar clinical features, but are in fact the result of differing events or exposures. Insight into the etiology of specific diseases as well as identification of possible causative agents is facilitated by discovery and examination of disease cases demonstrating etiologic heterogeneity. The results of these studies may also highlight possible gene-gene interactions and gene-environment interactions important in the disease process. Identifying etiologic heterogeneity can be an important step

NURS-4211 Population Cultural Considerations and Genetic Predispositions

toward analysis of diseases using molecular epidemiology techniques and may eventually lead to improved disease prevention strategies (Rebbeck et al., 1997).

As opposed to the Mendelian approach, the second approach to studying how variations in genes contribute to variations in disease risk focuses on understanding the genetic susceptibility to diseases as the consequence of the joint effects of many genes, each with small to moderate effects (i.e., polygenic models of disease) and often interacting among themselves and with the environment to give rise to the distribution of disease risk seen in a population (i.e., multifactorial models of disease). This approach has been used primarily for understanding the genetics of birth defects and common diseases and their risk factors. As described below, several steps are involved in developing such an understanding.

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NURS-4211 Population Cultural Considerations and Genetic Predispositions Grading Rubric

Performance Category	100% or highest level of performance 100% 16 points	Very good or high level of performance 88% 14 points	Acceptable level of performance 81% 13 points	Inadequate demonstration of expectations 68% 11 points	Deficient level of performance 56% 9 points	Failing level of performance 55% or less 0 points
Total Points Possible= 50	16 Points	14 Points	13 Points	11 Points	9 Points	0 Points
Scholarliness Demonstrates achievement of scholarly inquiry for professional and academic topics.	Presentation of information was exceptional and included all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information was good, but was superficial in places and included all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information was minimally demonstrated in all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in one of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in two of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in three or more of the following elements Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information
	16 Points	14 Points	13 Points	11 Points	9 Points	0 Points
Application of Course Knowledge Demonstrate the ability to analyze and apply principles, knowledge and information learned in the outside readings and relate them to real-life professional situations	Presentation of information was exceptional and included all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information was good, but was superficial in places and included all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information was minimally demonstrated in the all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in one of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from and scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in two of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in three of the following elements Applies principles, knowledge and information and scholarly resources to the required topic. Applies facts, principles or concepts learned scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.
	10 Points	9 Points			6 Points	0 Points
Interactive Dialogue Initial post should be a minimum of 300 words (references do not count toward word count) The peer and instructor responses must be a minimum of 150 words each (references do not count toward word count) Responses are substantive and relate to the topic.	Demonstrated all of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.	Demonstrated 3 of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.			Demonstrated 2 of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.	Demonstrated 1 or less of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.
	8 Points	7 Points	6 Points	5 Points	4 Points	0 Points
Grammar, Syntax, APA Points deducted for improper grammar, syntax and APA style of writing. The source of information is the APA Manual 6th Edition Error is defined to be a unique APA error. Same type of error is only counted as one error.	The following was present: 0-3 errors in APA format AND Responses have 0-3 grammatical, spelling or punctuation errors AND Writing style is generally clear, focused on topic,and facilitates communication.	The following was present: 4-6 errors in APA format. AND/OR Responses have 4-5 grammatical, spelling or punctuation errors AND/OR Writing style is somewhat focused on topic.	The following was present: 7-9 errors in APA format. AND/OR Responses have 6-7 grammatical, spelling or punctuation errors AND/OR Writing style is slightly focused on topic making discussion difficult to understand.	The following was present: 10- 12 errors in APA format AND/OR Responses have 8-9 grammatical, spelling and punctuation errors AND/OR Writing style is not focused on topic, making discussion difficult to understand.	The following was present: 13 – 15 errors in APA format AND/OR Responses have 8-10 grammatical, spelling or punctuation errors AND/OR Writing style is not focused on topic, making discussion difficult to understand. AND/OR The student continues to make repeated mistakes in any of the above areas after written correction by the instructor.	The following was present: 16 to greater errors in APA format. AND/OR Responses have more than 10 grammatical, spelling or punctuation errors. AND/OR Writing style does not facilitate communication
	0 Points Deducted					5 Points Lost
Participation Requirements	Demonstrated the following: Initial, peer, and faculty postings were made on 3 separate days					Failed to demonstrate the following: Initial, peer, and faculty postings were made on 3 separate days
	0 Points Lost					5 Points Lost
Due Date Requirements	Demonstrated all of the following: The initial posting to the graded threaded discussion topic is posted within the course no later than Wednesday, 11:59 pm MT. A minimum of one peer and one instructor responses are to be posted within the course no later than Sunday, 11:59 pm MT.					Demonstrates one or less of the following. The initial posting to the graded threaded discussion topic is posted within the course no later than Wednesday, 11:59 pm MT. A minimum of one peer and one instructor responses are to be posted within the course no later than Sunday, 11:59 pm MT.