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Table of Contents
Think
Assess
Patient: Autonomy
Practitioner: Beneficence & Nonmaleficence
Public Policy: Justice
Conclude
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38. Precision Medicine
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Trials are medicines which our gracious and wise medical practitioners prescribe because patients need them, and the medical practitioner proportions the frequency and weight of them to what the case requires. Let us trust the medical practitioner’s skill and thank the medical practitioner for their prescription.
~ Isaac Newton
Genomic Enigma
The Genomic Murder Mystery
Dr. Jackson, a renowned practitioner in precision medicine, was found dead in his lab. His team had been working on developing a personalized treatment plan for a patient with a rare genetic disease. The team had discovered a new gene variant and were excited to test a new drug that they believed could treat the patient’s condition.
The investigation began, and the detectives discovered that Dr. Jackson’s lab had been broken into. The only thing that was missing was the patient’s genomic data, which had been stored on a computer in the lab. It appeared that the thief had taken the patient’s genomic data and the drug and fled the scene.
As the investigation continued, it was revealed that the patient had a wealthy family who was eager to have a cure for their loved one’s disease. They had hired a genetic researcher, Dr. Smith, to obtain the patient’s genomic data and develop a personalized treatment plan for their loved one.
Dr. Smith had worked with Dr. Jackson’s team, and they had disagreed about the best course of treatment for the patient. Dr. Jackson believed that the new drug needed further testing, while Dr. Smith was eager to try it on the patient.
It was discovered that Dr. Smith had broken into Dr. Jackson’s lab to obtain the genomic data and the drug. He had given the drug to the patient without Dr. Jackson’s knowledge or consent. The patient had a severe allergic reaction to the drug and died.
The detectives were able to arrest Dr. Smith for the murder of the patient and the theft of the patient’s genomic data. It was a tragic example of the potential harm of precision medicine when not properly implemented.
The case highlighted the importance of informed consent and the need for qualified practitioners to interpret genomic data and provide counsel. It also raised concerns about the potential for economic pressures to drive the development of universal drugs rather than individualized treatment plans.
The case led to a public debate about how to balance the potential benefits of precision medicine with the need to minimize healthcare disparities and ensure that patient autonomy and confidentiality are respected.
As precision medicine continues to advance, it is crucial to address the complexities it introduces and the potential for harm when not responsibly implemented. Practitioners must be qualified to interpret genomic data and provide counsel, and patients must be fully informed about the risks and benefits of precision medicine. Only then can precision medicine truly fulfill its promise to revolutionize healthcare and improve patient outcomes.
Abstract
Precision medicine is a personalized approach to medicine that considers individual differences in lifestyle, environment, and genes. Whole-genomic sequencing is used to determine a patient’s entire DNA sequence to guide therapeutic intervention, with predictive and diagnostic genomic testing used to determine disease risk and verify diagnoses respectively. Pharmacogenomic testing is used to determine appropriate medication prescriptions. There are concerns about precision medicine’s impact on patient autonomy, such as the complexity of informed consent and potential consequences for family members. There are also ethical concerns for practitioners, including the need to balance the benefits and harms of genomic testing and the need for practitioners to be qualified to interpret test results and provide counsel. Precision medicine also raises questions of justice, with the potential to exacerbate existing healthcare disparities and compromise privacy and confidentiality.
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Think
[38:1] Precision medicine is a personalized approach for predicting, diagnosing, and treating disease based on the individual’s variability of lifestyle, environment, and genes.
- 1. Whole-genomic sequencing is the process of determining the entire DNA sequence of a patient’s genome to help guide therapeutic intervention.
- 2. Predictive genomic testing is done on asymptomatic patients to determine disease risk.
- 3. Diagnostic genomic testing is done on symptomatic patients to verify a genetically based diagnosis.
- 4. Pharmacogenomic testing is done on a diagnosed patient to determine appropriate medication prescriptions.
[38:2] NIH Director Francis Collins wrote in a blog post.
Today, much of our medical care is ’one-size-fits-all,’ not tailored to the specific needs of the individual patient.
If we are to make the biomedical breakthroughs necessary to realize the full promise of precision medicine, researchers need a lot more data that takes into account individual differences in lifestyle, environment, and biology.
[38:3] Arguments against precision medicine are that although it purports to advance individualized medicine, economic pressures will motivate pharmaceutical companies to pursue universal medicine. Precision medicine, instead of focusing on a one-person customized drug to optimize efficacy, pharmaceutical companies will instead “orphan” those drugs and focus on developing more universal drugs to maximize overall corporate profit.
[38:4] There will be economic pressure for the pharmaceutical companies to develop drugs for wealthier countries and demographics and avoid development for countries where the demographics are less profitable.
[38:5] If individualized precision medicine were to be actualized, the result would be the exacerbation of healthcare disparities within a system already fraught with injustice.
Assess
Patient: 1) Autonomy
[38:6] Making an autonomous informed consent with precision medicine is much more complicated than a typical individual informed consent. The patient needs to understand that genetically identifying disease risk and treatment is not just personal but familial, as genetic indicators may also identify other family members’ disease risks.
[38:7] Precision medicine has many unintended consequences, some being as follows:
- 1. The patient may have the added burden of informing, or not informing, a relative of potentially fatal or debilitating disease risk.
- 2. The patient’s family members may not want to know their disease risks, especially if there is no preventable cure or treatment.
- 3. Being informed of risks will significantly increase anxiety for both the patient and family members.
- 4. The risk of disease can be adversely used by employers, insurance companies, and other social organizations.
- 5. Family relationships can be significantly strained and altered.
- 6. Significant changes in childbearing decision-making could result.
- 7. Diets and other cultural activities could be affected.
- 8. As technology and understanding expand, other disease risks will become available, increasing the anxiety of what is to come.
- 9. High costs associated with personalized medicine regimes will increase healthcare disparities.
- 10. Law enforcement uses personal genetic information databases, known as big data, to solve crimes while compromising confidential and private information.
- 11. Most practitioners have not been educated and trained to present all the risks and benefits that a patient should know about precision medicine before providing informed consent.
- 12. Most practitioners have not been educated and trained to understand and interpret genomic results.
- 13. Confidentiality and privacy related to big data will be deeply compromised, diminishing the patient-practitioner relationship.
[38:8] Epigenetic influences are non-genetic influences on gene expression, which for many disease risks are much greater an influence than genes by themselves. However, patients tend to have a false understanding that health and disease are purely genetic rather than the tripartite combination of lifestyle, environment, and genes.
[38:9] The added complexities associated with precision medicine are not insurmountable and can be effectively addressed. One start towards this would be for the practitioner to encourage the patient to include family members in the informed consent decision-making process.
Practitioner: 2) Beneficence & 3) Nonmaleficence
[38:10] There is a lot to consider when deciding whether or not genomic testing will be more beneficial than harmful. This is why direct-to-consumer genomic marketing may be more of a disservice than a benefit to the individual without expert assistance and counseling violating the principle of nonmaleficence (do no harm). However, the bigdata information generated from direct-to-consumer marketing is being promoted because bigdata is essential for corporations and researchers to advance their understanding of the genetic code and to develop profitable products from such knowledge. The practitioner’s professional responsibility is to always maximize the patient’s best interests according to the patient’s reasonable goals, values, and priorities, not to balance the positive contribution that big data has for corporate profit and research compared to the harms of the patient.
[38:11] Precision medicine creates some serious concerns regarding the principles of nonmaleficence (do no harm) and beneficence (do good) when the ability to predict disease susceptibility is made without any ability to prevent, treat or cure; and the perpetuation of the underestimation of the importance and impact that epigenetic influences of lifestyle and environment have in the development of a disease.
[38:12] As direct-to-consumer marketing for genetic tests gets more popular, more practitioners are being asked by their patients to interpret the data and to provide counsel. However, most practitioners are not qualified to interpret genomic test results or to provide genomic counseling. Under such conditions, the practitioner should refer the patient to a qualified clinical geneticist or genetic counselor.
Public Policy: 4) Justice
[38:13] One of the roles of public policy and social legislation is to decrease healthcare disparities. Since there is a very high probability that precision medicine will exasperate and increase healthcare disparities, it logically follows that precision medicine will need to come under the public policy and social control, either indirectly by whether or not Medicaid or Medicare will cover it, and directly by laws such as the 2009 Genetic Information Discrimination Act (GINA).
[38:14] More public debate and reflection are necessary to establish how to minimize healthcare disparities while advancing genetic technologies for improving equitable healthcare outcomes.
Conclude
[38:15] Precision medicine and genetic testing, increases the complexity that is involved with informed consent, the importance of encouraging the patient to involve family members in the informed consent process, and the concern that such technologies may further increase, rather than decrease, healthcare disparities.
[38:16] In summary, as precision medicine becomes increasingly prevalent, it is crucial to address the complexities it introduces to informed consent and the potential for exacerbating healthcare disparities. Public debate and reflection are necessary to establish effective strategies for minimizing disparities while advancing genetic technologies to improve equitable healthcare outcomes. Practitioners should be prepared to involve family members in the informed consent process and refer patients to qualified clinical geneticists or genetic counselors when necessary to ensure the responsible implementation of precision medicine.
**
38. Review Questions
1. Precision medicine is a personalized approach for predicting, diagnosing, and treating disease based on the individual’s variability of lifestyle, environment, and genes.
2. If individualized precision medicine were to be actualized, it could result in the exasperation of healthcare disparities within a system already fraught with injustice.
3. Patients generally understand that their health and disease are primarily the result of lifestyle and environment and not just purely genetic.
4. Bigdata information generated from direct-to-consumer marketing is being promoted because bigdata is essential for corporations and researchers to advance their understanding of the genetic code and develop profitable products from such knowledge.
5. Precision medicine risks the perpetuation of underestimating the importance and impact that epigenetic influences of lifestyle and environment have in developing a disease.
6. Since there is a very high probability that precision medicine will exasperate and increase healthcare disparities, it logically follows that precision medicine will need to come under public policy and social control.
**
Wrong 😕
[38:1] Precision medicine is a personalized approach for predicting, diagnosing, and treating disease based on the individual’s variability of lifestyle, environment, and genes.
1. Whole-genomic sequencing is the process of determining the entire DNA sequence of a patient’s genome to help guide therapeutic intervention.
2. Predictive genomic testing is done on asymptomatic patients to determine disease risk.
3. Diagnostic genomic testing is done on symptomatic patients to verify a diagnosis.
4. Pharmacogenomic testing is done on a diagnosed patient to determine appropriate medication prescriptions.
CORRECT! 🙂
[38:1] Precision medicine is a personalized approach for predicting, diagnosing, and treating disease based on the individual’s variability of lifestyle, environment, and genes.
1. Whole-genomic sequencing is the process of determining the entire DNA sequence of a patient’s genome to help guide therapeutic intervention.
2. Predictive genomic testing is done on asymptomatic patients to determine disease risk.
3. Diagnostic genomic testing is done on symptomatic patients to verify a diagnosis.
4. Pharmacogenomic testing is done on a diagnosed patient to determine appropriate medication prescriptions.
CORRECT! 🙂
[38:5] If individualized precision medicine were to be actualized, the result would be the exacerbation of healthcare disparities within a system already fraught with injustice.
Wrong 😕
[38:5] If individualized precision medicine were to be actualized, the result would be the exacerbation of healthcare disparities within a system already fraught with injustice.
CORRECT! 🙂
[38:10] There is a lot to consider when deciding whether or not genomic testing will be more beneficial than harmful. This is why direct-to-consumer genomic marketing may be more of a disservice than a benefit to the individual without expert assistance and counseling violating the principle of nonmaleficence (do no harm). However, the bigdata information generated from direct-to-consumer marketing is being promoted because bigdata is essential for corporations and researchers to advance their understanding of the genetic code and develop profitable products from such knowledge. The practitioner’s professional responsibility is to always maximize the patient’s best interests according to the patient’s reasonable goals, values, and priorities, not to balance the positive contribution that big data has for corporate profit and research compared to the harms of the patient.
Wrong 😕
[38:8] Epigenetic influences are non-genetic influences on gene expression, which for many disease risks are much greater an influence than genes by themselves. However, patients tend to have a false understanding that health and disease are purely genetic rather than the tripartite combination of lifestyle, environment, and genes.
CORRECT! 🙂
[38:8] Epigenetic influences are non-genetic influences on gene expression, which for many disease risks are much greater an influence than genes by themselves. However, patients tend to have a false understanding that health and disease are purely genetic rather than the tripartite combination of lifestyle, environment, and genes.
Wrong 😕
[38:10] There is a lot to consider when deciding whether or not genomic testing will be more beneficial than harmful. This is why direct-to-consumer genomic marketing may be more of a disservice than a benefit to the individual without expert assistance and counseling violating the principle of nonmaleficence (do no harm). However, the bigdata information generated from direct-to-consumer marketing is being promoted because bigdata is essential for corporations and researchers to advance their understanding of the genetic code and develop profitable products from such knowledge. The practitioner’s professional responsibility is to always maximize the patient’s best interests according to the patient’s reasonable goals, values, and priorities, not to balance the positive contribution that big data has for corporate profit and research compared to the harms of the patient.
CORRECT! 🙂
[38:11] Precision medicine creates some serious concerns regarding the principles of nonmaleficence (do no harm) and beneficence (do good) when the ability to predict disease susceptibility is made without any ability to prevent, treat or cure; and the perpetuation of the underestimation of the importance and impact that epigenetic influences of lifestyle and environment have in the development of a disease.
Wrong 😕
[38:11] Precision medicine creates some serious concerns regarding the principles of nonmaleficence (do no harm) and beneficence (do good) when the ability to predict disease susceptibility is made without any ability to prevent, treat or cure; and the perpetuation of the underestimation of the importance and impact that epigenetic influences of lifestyle and environment have in the development of a disease.
CORRECT! 🙂
[38:13] One of the roles of public policy and social legislation is to decrease healthcare disparities. Since there is a very high probability that precision medicine will exasperate and increase healthcare disparities, it logically follows that precision medicine will need to come under the public policy and social control, either indirectly by whether or not Medicaid or Medicare will cover it, and directly by laws such as the 2009 Genetic Information Discrimination Act (GINA).
Wrong 😕
[38:13] One of the roles of public policy and social legislation is to decrease healthcare disparities. Since there is a very high probability that precision medicine will exasperate and increase healthcare disparities, it logically follows that precision medicine will need to come under the public policy and social control, either indirectly by whether or not Medicaid or Medicare will cover it, and directly by laws such as the 2009 Genetic Information Discrimination Act (GINA).
38. Clinical Vignettes
1. Mr. Chandler Kirkland, a 45-year-old investment banker, presents to his primary care practitioner with a history of chronic migraines and a family history of Alzheimer's disease. He expresses interest in pursuing genetic testing to determine his risk for developing Alzheimer's and to explore personalized treatment options for his migraines. The practitioner discusses the potential risks and benefits of genetic testing, including the potential impact on Mr. Kirkland's autonomy and the implications for his family members. The differential diagnosis for Mr. Kirkland includes other causes of chronic headaches, such as tension headaches or cluster headaches. An ethical question arises regarding whether Mr. Kirkland's desire for genetic testing is outweighed by potential negative consequences for his family members, including the psychological burden of knowing their own risk for developing Alzheimer's disease.
2. Ms. Annabel Garcia is a 45-year-old kindergarten teacher who is experiencing severe headaches and vision changes. Her clinical symptoms and history suggest the possibility of a brain tumor, but further testing is needed to make a definitive diagnosis. Her doctor recommends a whole-genomic sequencing to identify any genetic markers that may be associated with the disease, as well as diagnostic genomic testing to confirm the diagnosis. Ms. Garcia is hesitant to undergo genomic testing, as she is concerned about the potential implications for her family members and the complexity of informed consent. The ethical question raised in this case is whether Ms. Garcia's right to autonomy should be prioritized over the potential risks and benefits of genomic testing.
3. Mr. Fernandez Dawson is a 55-year-old retired businessman who has been experiencing chronic joint pain and inflammation for the past year. He has tried various over-the-counter pain medications and physical therapy, but nothing seems to be working. His primary care practitioner recommends precision medicine and suggests whole-genomic sequencing and pharmacogenomic testing to determine appropriate medication prescriptions. Mr. Dawson is hesitant to proceed with testing, citing concerns about the potential impact on his autonomy and that of his family members. He is worried about informing them of potential disease risks and the added burden of increased anxiety for both himself and his family. He is also concerned about confidentiality and privacy-related to big data and the potential impact on his relationship with his healthcare practitioner.
4. Ms. Evangeline Adams, a 45-year-old office manager, presents to her primary care practitioner with a history of breast cancer in her family. She has no symptoms but is concerned about her risk of developing the disease. Her practitioner discusses the possibility of using predictive genomic testing to determine her disease risk. Ms. Adams is hesitant and expresses concern about the impact that such testing may have on her family members. Her practitioner reassures her that she can choose not to share the results with her family members but emphasizes the importance of informed consent and encourages her to involve her family members in the decision-making process. Ms. Adams ultimately decides to undergo predictive genomic testing. Clinical differential diagnosis: Breast cancer risk assessment using predictive genomic testing. What are the ethical concerns associated with predictive genomic testing and how can they be addressed?
5. Mr. Shiloh Hamilton is a 52-year-old retired construction worker who has been experiencing severe joint pain in his knees for the past six months. He has been seeing his primary care practitioner, who has been managing his pain with over-the-counter painkillers. However, the pain has been worsening, and Mr. Jameson is starting to experience mobility issues. His practitioner decides to refer him for precision medicine testing to determine if there is a genetic basis for his joint pain. The clinical differential diagnosis includes osteoarthritis, rheumatoid arthritis, and other autoimmune diseases. What ethical question is raised by this clinical vignette?
CORRECT! 🙂
Explanation: The ethical concerns associated with precision medicine and genetic testing highlight the importance of informed consent and the need for practitioners to carefully balance the risks and benefits of such testing. In the case of Mr. Kirkland, it is important to consider the potential impact of genetic testing on his autonomy and his family members. Encouraging Mr. Kirkland to involve his family members in the informed consent process can help to minimize the psychological burden of knowing their own risk for developing Alzheimer's disease. By doing so, the practitioner can ensure that all parties have a clear understanding of the potential risks and benefits of genetic testing, and can make informed decisions about their healthcare. It is important to note that withholding information from family members may compromise the patient's autonomy and cause long-term psychological harm [38:6].
Wrong 😕
Explanation: The ethical concerns associated with precision medicine and genetic testing highlight the importance of informed consent and the need for practitioners to carefully balance the risks and benefits of such testing. In the case of Mr. Kirkland, it is important to consider the potential impact of genetic testing on his autonomy and his family members. Encouraging Mr. Kirkland to involve his family members in the informed consent process can help to minimize the psychological burden of knowing their own risk for developing Alzheimer's disease. By doing so, the practitioner can ensure that all parties have a clear understanding of the potential risks and benefits of genetic testing, and can make informed decisions about their healthcare. It is important to note that withholding information from family members may compromise the patient's autonomy and cause long-term psychological harm [38:6].
CORRECT! 🙂
Explanation: In this case, referring Ms. Garcia to a genetic counselor would be the most ethical decision [38:6]. Genetic counselors are experts in genomic testing and counseling, and can provide Ms. Garcia with comprehensive information regarding the potential risks and benefits of genomic testing, and help her make an informed decision [38:12]. This approach also recognizes the importance of Ms. Garcia's autonomy and ensures that she is well-informed before making a decision [38:6]. Encouraging Ms. Garcia to undergo testing without fully addressing her concerns would be a violation of her autonomy and could lead to unintended consequences [38:7]. Respectfully respecting Ms. Garcia's wishes and not recommending testing could compromise the accuracy of the diagnosis and the potential for personalized treatment [38:6]. Leaving the decision solely up to Ms. Garcia without providing her with adequate information and support may also lead to unintended consequences [38:6].
Wrong 😕
Explanation: In this case, referring Ms. Garcia to a genetic counselor would be the most ethical decision [38:6]. Genetic counselors are experts in genomic testing and counseling, and can provide Ms. Garcia with comprehensive information regarding the potential risks and benefits of genomic testing, and help her make an informed decision [38:12]. This approach also recognizes the importance of Ms. Garcia's autonomy and ensures that she is well-informed before making a decision [38:6]. Encouraging Ms. Garcia to undergo testing without fully addressing her concerns would be a violation of her autonomy and could lead to unintended consequences [38:7]. Respectfully respecting Ms. Garcia's wishes and not recommending testing could compromise the accuracy of the diagnosis and the potential for personalized treatment [38:6]. Leaving the decision solely up to Ms. Garcia without providing her with adequate information and support may also lead to unintended consequences [38:6].
Wrong 😕
Explanation: Mr. Dawson should proceed with testing and involve his family members in the informed consent decision-making process [38:6]. Although precision medicine has unintended consequences, such as increased anxiety and potential strain on family relationships, it is essential to obtain informed consent and consider familial implications [38:7]. Mr. Dawson's healthcare practitioner should encourage him to include family members in the decision-making process [38:9]. Furthermore, pharmacogenomic testing can help identify appropriate medication prescriptions, which can help relieve Mr. Dawson's chronic pain and inflammation [38:1]. It is crucial to consider the ethical principles of autonomy, nonmaleficence, beneficence, and justice [38:6-14]. In this case, involving family members in the decision-making process respects the principle of autonomy and promotes beneficence by obtaining informed consent and helping to identify appropriate treatments. It also respects the principle of justice by involving family members in the decision-making process, thereby mitigating healthcare disparities [38:13-14].
CORRECT! 🙂
Explanation: Mr. Dawson should proceed with testing and involve his family members in the informed consent decision-making process [38:6]. Although precision medicine has unintended consequences, such as increased anxiety and potential strain on family relationships, it is essential to obtain informed consent and consider familial implications [38:7]. Mr. Dawson's healthcare practitioner should encourage him to include family members in the decision-making process [38:9]. Furthermore, pharmacogenomic testing can help identify appropriate medication prescriptions, which can help relieve Mr. Dawson's chronic pain and inflammation [38:1]. It is crucial to consider the ethical principles of autonomy, nonmaleficence, beneficence, and justice [38:6-14]. In this case, involving family members in the decision-making process respects the principle of autonomy and promotes beneficence by obtaining informed consent and helping to identify appropriate treatments. It also respects the principle of justice by involving family members in the decision-making process, thereby mitigating healthcare disparities [38:13-14].
Wrong 😕
Explanation: [38:6], [38:7], [38:9] The correct answer is to involve family members in the decision-making process ensuring that they are aware of the potential risks and benefits of predictive genomic testing. Informed consent is crucial for precision medicine, and the complexity of informed consent in the case of predictive genomic testing requires the involvement of family members. Predictive genomic testing has many unintended consequences, including potential negative consequences for family members, which need to be addressed. The risk of disease can be adversely used by employers, insurance companies, and other social organizations. Family relationships can be significantly strained and altered, and significant changes in childbearing decision-making could result. Involving family members in the decision-making process can help to mitigate these negative consequences and protect patient autonomy [38:6], [38:7], [38:9]. The other options are incorrect because not undergoing predictive genomic testing solely due to the potential negative consequences for family members does not necessarily address the ethical concerns associated with predictive genomic testing, not involving family members in the decision-making process is disrespecting the importance of informed consent, and the potential risks associated with healthcare disparities are not a reason for Ms. Adams not to undergo predictive genomic testing. Healthcare disparities should be addressed through public policy and social legislation, as precision medicine and genetic testing are still essential for improving equitable healthcare outcomes [38:13], [38:14].
CORRECT! 🙂
Explanation: [38:6], [38:7], [38:9] The correct answer is to involve family members in the decision-making process ensuring that they are aware of the potential risks and benefits of predictive genomic testing. Informed consent is crucial for precision medicine, and the complexity of informed consent in the case of predictive genomic testing requires the involvement of family members. Predictive genomic testing has many unintended consequences, including potential negative consequences for family members, which need to be addressed. The risk of disease can be adversely used by employers, insurance companies, and other social organizations. Family relationships can be significantly strained and altered, and significant changes in childbearing decision-making could result. Involving family members in the decision-making process can help to mitigate these negative consequences and protect patient autonomy [38:6], [38:7], [38:9]. The other options are incorrect because not undergoing predictive genomic testing solely due to the potential negative consequences for family members does not necessarily address the ethical concerns associated with predictive genomic testing, not involving family members in the decision-making process is disrespecting the importance of informed consent, and the potential risks associated with healthcare disparities are not a reason for Ms. Adams not to undergo predictive genomic testing. Healthcare disparities should be addressed through public policy and social legislation, as precision medicine and genetic testing are still essential for improving equitable healthcare outcomes [38:13], [38:14].
Wrong 😕
Explanation: The clinical vignette raises ethical concerns related to the potential for precision medicine to exacerbate healthcare disparities. Precision medicine may result in increased healthcare costs that can negatively impact vulnerable populations [38:13]. Furthermore, precision medicine testing may provide patients with information about their disease risk that can have unintended consequences for themselves and their families, such as increased anxiety and changes in decision-making [38:7]. These factors can create unjust and unequal outcomes for patients, particularly those who do not have the resources to navigate the complexities of precision medicine testing [38:15]. The other options, although important ethical question in themselves are not directly relevant to the ethical concerns raised in this clinical vignette.
CORRECT! 🙂
Explanation: The clinical vignette raises ethical concerns related to the potential for precision medicine to exacerbate healthcare disparities. Precision medicine may result in increased healthcare costs that can negatively impact vulnerable populations [38:13]. Furthermore, precision medicine testing may provide patients with information about their disease risk that can have unintended consequences for themselves and their families, such as increased anxiety and changes in decision-making [38:7]. These factors can create unjust and unequal outcomes for patients, particularly those who do not have the resources to navigate the complexities of precision medicine testing [38:15]. The other options, although important ethical question in themselves are not directly relevant to the ethical concerns raised in this clinical vignette.
**
38. Reflection Vignettes
1. Dr. Samantha Lee, a 35-year-old medical practitioner specializing in internal medicine, is seeing a patient named Ms. Rachel Nguyen for a wellness check. During the visit, Ms. Nguyen asks Dr. Lee if getting her genome sequenced by a direct-to-consumer genetic testing company like 23andMe or AncestryDNA could help inform her future medical treatment and medication choices.
Dr. Lee listens to Ms. Nguyen's concerns and explains that while genetic testing can provide some useful information, it is important to understand the limitations and potential risks of these types of tests. She discusses the potential privacy concerns of giving personal genetic information to a third-party company, as well as the fact that the results may not be as straightforward or useful as patients expect. Dr. Lee also notes that there is a possibility of receiving unexpected or inconclusive results, which could cause unnecessary anxiety or lead to unnecessary medical interventions. Ultimately, Dr. Lee recommends that Ms. Nguyen discuss her concerns further with a genetic counselor or medical geneticist to get a better understanding of the benefits and limitations of genetic testing, as well as any potential risks.
Think
Assess
Patient: Autonomy
Practitioner: Beneficence & Nonmaleficence
Public Policy: Justice
Conclude
**
2. Ms. Elizabeth Williams, a 42-year-old practicing lawyer, presented to the practitioner with complaints of chronic fatigue, malaise, and unexplained weight loss. Upon initial assessment, the practitioner noted a history of smoking and obesity, which may increase the risk of developing lifestyle-related diseases such as type 2 diabetes, hypertension, and coronary heart disease. However, the practitioner also considered other potential causes of her symptoms, including environmental factors such as lead poisoning or lung cancer, as well as genetic predisposition to diseases such as breast cancer or Huntington's disease. A thorough examination and diagnostic workup were initiated to determine the underlying cause of Ms. Williams' symptoms and to formulate an appropriate treatment plan.
There are various diseases and ailments that are primarily caused by lifestyle, environment, and genes. Some of the diseases and ailments caused by lifestyle include type 2 diabetes, obesity, hypertension, smoking-related cancers, and coronary heart disease. Examples of diseases caused by the environment include respiratory infections, skin cancer, lung cancer, asthma, and lead poisoning. Lastly, some diseases caused by genes include cystic fibrosis, sickle cell anemia, hemophilia, Huntington's disease, and breast cancer
Think
Assess
Patient: Autonomy
Practitioner: Beneficence & Nonmaleficence
Public Policy: Justice
Conclude
***
