nursing
Fanta Jalloh
360.GenomicsExample10.27withvoiceover1.pptxColorectal Cancer and Genomics
(image from Harvard Medical)
NURS 360: Pathophysiology
Ruth Van Heukelom
1
image from Harvard Medical
This is an example of the type of presentation I am looking for. Not perfect, but will provide some guidance. I will add some extra comments (beyond the content of this presentation) regarding citations, etc. I am going to add a few personal things in the voice over and notes section with the goal of making this more relevant, but that is not required or expected. I chose this because I am a colon cancer survivor. I advocated for myself and asked for a colonoscopy at age 40 because I had a strong family history of colon cancer.
1
Overview of Colorectal Cancer
Colon cancer is a leading cause of cancer death
Death rate in the United States declining
Genetics is a contributor to development in some cases (American Cancer Society, 2021)
(
2
A very common type of cancer in the US and around the world. According the the American Cancer Society, it was the second leading cause of cancer death. Death rate is declining due to earlier detection and treatment. Please remember that genetics do not contribute to most cases. That is important as we don’t want people to think that if they don’t have a family history they are ‘safe’
2
Overview (continued)
Typically present for a significant time
before symptoms occur
Symptoms generally include:
rectal bleeding, change in bowel habits
pain is a late symptom
Prognosis depends on:
extent of bowel involvement
presence of metastasis.
(American Cancer Society fact sheet, 2022)
3
Colorectal Cancer (CRC) is generally slow growing and typically starts in the lumen of the colon. If detected before it penetrates the bowel wall (in Situ) the prognosis is excellent. Local – the tumor has penetrated the bowel wall; Regional – tumor has spread to nearby tissue or near by lymph nodes; Distant – has spread to other organs (ex. Liver or lung). ACS fact sheet. I was asymptomatic at the time of my initial colonoscopy, the malignancy was found in my transverse colon. I had a transverse colon resection and it was determined that it had penetrated through the bowel wall but had not spread to any tissue or regional lymph nodes. So prognosis was excellent and here I am over 20 years later
3
Colon Cancer and genetics
4
National Cancer Institute, 2022
This is right from the National Cancer Institute. As you can see the vast majority of cases are sporadic. And the majority of these begin as an adenomatous polyp
4
An average of 10% of all cancers (higher in colon cancer) can be attributed to genetic predisposition
A family history is one of the most effective tools for predicting some illness and cancers
The family history at the minimum should include 1st and 2nd degree relatives
(Gupta, et al., 2020).
5
Significance of Family History
This is where the nursing role is very important. We must take the time to take this family history portion of the assessment seriously (sometimes clinics just let the person use the iPad to fill all of this in. Consequently there are lots of ‘misses’ And it should include parents, siblings, grandparents, aunts and uncles. This is not only true as it relates to colon cancer. This saves lives!!!
5
6
Genetics and Environment Converge
Colon cancer is often the result of a
multistep process of genetic and
epigenetic changes
As an example, obesity and inactivity can
result in lack of ability to suppress tumor
development and growth
Ayers, et al., 2019)
Image from CDC
Most often there are epigenetic changes –risk factors contribute to these epigenetic changes over time. We are not getting deep into cellular pathophysiology here, but our bodies must be able to suppress tumor development. Epigentics
6
Epigenetics
Behaviors and environment can contribute to changes in how genes work. Epigenetic changes are reversible (do not change DNA) but can impact how body reads DNA sequence.
Epigenetic change impacts gene expression to turn genes “on” and “off.” Things like diet and exercise can impact epigenetic. (CDC, 2022)
7
This is where primary prevention can make an impact! We can’t change genetic code, but we can impact disease expression. Epigenetics is fascinating. We cannot change our genetics. However, behaviors and environment impact gene expression. Epigenetic changes are reversible and do not change DNA sequence, but can change how your body reads a DNA sequence. Epigentic changes turn genes on and off.
7
8
Genetics and Environment Converge
A single-nucleotide polymorphism (SNP – pronounced snip) is a variation at a specific position in the genome
SNPs underlie differences in our susceptibility to disease
A number of single variations converge with environmental factors to increase risk of some cancers, including colon cancer
(Yang, et al., 2019)
Sampling of factors associated with colorectal cancer
9
Association between selenoprotein genes and colorectal cancer development
Higher levels of insulin like growth factor 2 receptor (IGF2R) associated colorectal neoplasia
Polymorphism 609C4T is associated with
higher risk of colon cancer
There are many, many more!
(Chen, et al.,2020, Luo, et al., 2020., & Shi et al., 2020)
This is just a sampling. There are many more. Generalist nurses don’t need to know these, but it is interesting
9
10
Also called hereditary non-polyposis colon cancer (HNPCC)
Lifetime risk of colon cancer is up to 80%
Cancer typically occurs in younger people
Increased risk for a variety of other cancers (esp. ovarian, breast, endometrial, pancreatic) (Mahon, 2021)
Lynch syndrome
Lynch syndrome is one type of hereditary cancer. Go back to slide 4 and the graphic from the National Cancer Institute – about 2-3 % of colon cancers are related to Lynch Syndrome. Genetic testing is often done as if positive, these individuals are also at high risk for a variety of other cancers – I have the most common listed on the slide
10
Risk Assessment
Modifiable Risk:
- High fat, low fiber diet increases risk
- Regular exercise decreases risk
- Obesity increases risk
Aspirin – regular use of low dose aspirin decreases risk
More than two drinks with alcohol daily increases risk
(National Cancer Institute at National Institutes of Health)
11
This slide includes some of the modifiable risk factors. Low fiber diets allow fecal material to stagnate in the colon for a longer period of time creating more toxins in the colon. Epigenetics are a component of most of these risk factors.. Epigentic changes begin at birth. Colorectal cancers are often related to methylation (which is adding of a chemical group) at DNA regions near certain genes, which affects expression of these genes. Methylation turns genes off and demythylation turns genes on. As mentioned earlier, obesity and inactivity impact the ability to suppress abnormal cell replication
11
Primary Prevention
Between 20 – 70% of colon cancers could be prevented by health practices that include:
Abstinence from smoking
Maintaining a healthy weight
Limiting alcohol
Eating a healthy diet
Being physically active
Nurses cannot assume that the general public knows this!
(Wang, et al., 2021)
12
Note the statistics here!! 20 – 70% is very significant. So often nurses think everyone knows this, but many do not. Education is important and so is removing barriers
12
Risk Assessment
Non - modifiable risk:
Age – risk generally increases with age
Ethnicity – impacts all groups, burden greater on some
Gender – rates higher in men
A personal history of colon polyps
Genomic factors
(National Cancer Institute at National Institutes of Health)
13
About 12% of colorectal cancers are diagnosed before age 50 (American Cancer Society facts sheet). And rates among those under age 50 are increasing likely related to sedentary lifestyles and dietary patterns. Rates higher in men probably due to environmental risk and hormonal factors. More on ethnicity in a future slide.
13
Risk Assessment
14
Individuals who are aware of family history
of cancer may not always share with
healthcare providers, often secondary to
lack of knowledge or fear.
Individuals may be hesitant to share risk with family members.
The nurse have a role in encouraging information sharing in both situations. (Beamer, 2017)
It is important to take time with this family history. Some individuals may not be willing to share or minimize the importance of a family history.
Additionally, individuals should share with their family members if they know or learn that they are at risk. Nurses can encourage this sharing of information via appropriate communication practices.
14
Secondary Prevention
15
All people at average risk should start testing at
age 45.
If you're younger than 45 and have
a family family history talk to your
health care provider.
Most often a colonoscopy is the preferred
diagnostic measure for those at increased risk
(American Cancer Society)
Remember secondary prevention does not prevent the initial insult, but detects early and so hopefully halts progression
15
Secondary Prevention
Fecal DNA testing (ex. Cologard)
targets multiple genes often altered in colon shedding cells
non-invasive, no iatrogenic issues, no dietary
restrictions or challenging prep
not as effective in detecting large adenomas
Both fecal testing for blood and colonoscopies were determined
to be more effective and less expensive tests for colon cancer
screening than fecal DNA testing
(Almeida-Lousada, et al., 2021)
16
Cologard was first approved by the FDA in 2014. Popular as it is non invasive, not embarrassing, no prep, etc. Not a perfect solution – expensive and not effective in detecting ademonas. As it says on the slide Cologard looks for specific genes that are shed within the colon. If positive the person will still need a colonoscopy.
16
Racial and Ethnic Disparities
Incidence and mortality highest in Non-Hispanic Blacks and lowest in Asian / Pacific Islanders
Differences likely related to risk factor prevalence and health care access
(American Cancer Society, 2022)
17
In the United States (not worldwide data). Differences not related to genomics, but social determinants of health (risk factors (access to healthy diets) and access to early and quality care
17
Ethical Considerations
18
Be sure to adhere to the grading rubric to earn full points (it will likely take several slides)
Consider ethics as it relates specifically to genomics
Hint: Go to the end of the article by Cheek & Howington (linked into the module) as a place to start.
There are a lot of excellent articles available from the SMSU library. Some of these are linked into the module.
I didn’t do this part of the presentation as considerations will be similar for many alterations. There are a lot of references included in the module guide and there are many, many more. In CINAHL, I started with the search terms ‘genomics’ and ‘ethics’ when I limited the search terms to titles there were over 300 articles and five times that many when limited to abstracts. Your slides must be specific to genomics – not looking for Provisions from the Code of Ethics or principles of ethics (beneficence, etc.) although the broad principles are applicable.
18
References
Note: Your slides should include citations. If you use graphics other than stock photos, you should include the source. Any slide that includes ‘content’ relevant to the presentation needs a source citation (ex. slide five of this presentation).
This will likely take a couple slides
Help for citations, references, preparing power point presentations and more can be found:
In your APA handbook
In the APA resource prepared by Dr. Liebold - posted in the ‘Getting Started’ folder under ‘content’ in D2L Brightspace
In the ‘Tips for Preparing a Power Point Presentation’ prepared by Dr. Leibold - posted in the ‘Getting Started’ folder under ‘content’ in D2L Brightspace
19
References
American Cancer Society. (2022, October 20). Cancer Screening Guidelines by Age. https://www.cancer.org/healthy/find-cancer-early/screening-recommendations-by-age.html#40-49
American Cancer Society. Colorectal Cancer: Facts and Figures 2020 - 2022. (2022, October 26).https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/colorectal-cancer-facts-and-figures/colorectal-cancer-facts-and-figures-2020-2022.pdf
Almeida-Lousada, H., Mestre, A., Ramalhete, S., Price, A. J., Andrade de Mello, R., Marreiros, A. D., Pires das Neves, R., & Castelo-Branco, P. (2021). Screening for Colorectal Cancer Leading into a New Decade: The “Roaring '20s” for Epigenetic Biomarkers? Current Oncology, 28(6), 4874–4893. https://doi-org.ssuproxy.mnpals.net/10.3390/curroncol28060411
Ayers, D., Boughanem, H., & Macías-González, M. (2019). Epigenetic Influences in the Obesity/Colorectal Cancer Axis: A Novel Theragnostic Avenue. Journal of Oncology, 1–10. https://doi-org.ssuproxy.mnpals.net/10.1155/2019/7406078
Beamer, L. C. (2017). Ethics and Genetics: Examining a crossroads in nursing through a case study. Clinical Journal of Oncology Nursing, 21(6), 730–737. https://doi-org.ssuproxy.mnpals.net/10.1188/17.CJON.730-737
20
References
Centers for Disease Control and Prevention. (2022, March 9). Hereditary Colorectal (Colon) Cancer. https://www.cdc.gov/genomics/disease/colorectal_cancer/family_history_coloretal.htm
Centers for Disease Control and Prevention. (2022, Aug.15). What is Epigenetics? https://www.cdc.gov/genomics/disease/epigenetics.htm
Chen, H., Luo, J., & Guo, J. (2020). Development and validation of a five-immune gene prognostic risk model in colon cancer. BMC Cancer, 20(1), 1–10. https://doi-org.ssuproxy.mnpals.net/10.1186/s12885-020-06799-0
Gupta, S., Bharti, B., Ahnen, D. J., Buchanan, D. D., Cheng, I. C., Cotterchio, M., Figueiredo, J. C., Gallinger, S. J., Haile, R. W., Jenkins, M. A., Lindor, N. M., Macrae, F. A., Le Marchand, L., Newcomb, P. A., Thibodeau, S. N., Win, A. K., & Martinez, M. E. (2020). Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer. Cancer (0008543X), 126(13), 3013–3020. https://doi-org.ssuproxy.mnpals.net/10.1002/cncr.32851
Luo, D., Shan, Z., Liu, Q., Cai, S., Li, Q., & Li, X. (2020). A Novel Seventeen-Gene Metabolic Signature for Predicting Prognosis in Colon Cancer. BioMed Research International, 1–12. https://doi-org.ssuproxy.mnpals.net/10.1155/2020/4845360
21
References
Mahon, S. M. (2021). Genetic Disorder Reference Sheet: Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer). ONS Voice, 36(1), 30–31.
National Cancer Institute at the National Institutes of Health. Colorectal Cancer Risk Assessment Tool. Risk https://ccrisktool.cancer.gov/calculator.html
National Cancer Institute at the National Institutes of Health. (2020, Oct. 7). Can Taking Aspirin Help Prevent Cancer? https://www.cancer.gov/about-cancer/causes-prevention/research/aspirin-cancer-risk
Shi, C., Ding, K., Li, K., Long, L., Li, J., & Hu, B. (2020). Comprehensive analysis of location-specific hub genes related to the pathogenesis of colon cancer. Medical Oncology, 37(9), 1–12. https://doi-org.ssuproxy.mnpals.net/10.1007/s12032-020-01402-9
Wang, K., Ma, W., Wu, K., Ogino, S., Chan, A. T., Giovannucci, E. L., & Song, M. (2021). Healthy lifestyle, endoscopic screening, and colorectal cancer incidence and mortality in the United States: A nationwide cohort study. PLoS Medicine, 18(2), 1–18. https://doi-org.ssuproxy.mnpals.net/10.1371/journal.pmed.1003522
Yang T, Li X, Montazeri Z, Little J, Farrington SM, Ioannidis JPA, Dunlop MG, Campbell H, Timofeeva M, Theodoratou E. Gene-environment interactions and colorectal cancer risk: An umbrella review of systematic reviews and meta-analyses of observational studies. Int J Cancer. 2019 Nov 1;145(9):2315-2329.
22
