Can We fully understand the role of Genetics in health?
Indeed many would argue that, without incorporating the equally important role of the environment, we will never fully understand the role of genetics in health.
Should we mandate genetic diagnosis and treatment for genetic disorders?
Mandating diagnosis and treatment for genetic disorders is particularly problematic when the concept of disease is so flexible. Arno Motulsky has noted that " [t]he precise definition of 'disease' regardless of etiology, is difficult." 43 He notes that maladies such as high blood pressure and mental retardation are based on arbitrary cutoff levels.
Should genetic testing be used to direct drug treatment?
Genetic testing could lead to fewer side effects, not only by directing the choice of medications but also through a reduction in the nocebo effect. Here’s the part where I’m obligated to mention the limitations of using genetic testing to direct drug treatment.
Why would a doctor contact a relative with a genetic disorder?
The only potential argument that the health care professional could make for contacting the relative is that through diagnosis of the patient, the health care professional has reason to believe that the relative is at higher risk than the general population of being affected by a genetic disorder.
Why is it difficult to diagnose genetic conditions?
A DNA test can be performed on any tissue sample and require very small amounts of sample. For some genetic diseases, many different mutations can occur in the same gene and result in the disease, making molecular testing challenging.
What is the problem with genetic testing?
Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time.
Why is it difficult to cure a human genetic disorder?
Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured.
How can knowing about genetics help treat disease?
Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease. Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.
What are the disadvantages of genetic testing?
Some disadvantages, or risks, that come from genetic testing can include:Testing may increase your stress and anxiety.Results in some cases may return inconclusive or uncertain.Negative impact on family and personal relationships.You might not be eligible if you do not fit certain criteria required for testing.
What are some pros and cons of genetic testing?
Pros of Genetic TestingTreatment of Disease. ... Lifestyle Changes for Disease Prevention. ... Stress Release from Lack of Genetic Variants. ... A Negative Test Could Mask Additional Causes. ... A Positive Test Could Unnecessarily Increase Stress. ... Genetic Purgatory. ... Cost. ... Privacy Concerns.More items...•
Why is it difficult to cure a human genetic disorder quizlet?
Why is it difficult to cure a human genetic disorder? because it is not a disease and every cell in that persons body contains the mutation. Treatment is possible but no cure.
What are the disadvantages of gene therapy?
Potential Disadvantages of Gene Therapy Gene therapy poses a number of risks. The way the genes are delivered and the different vectors may present the following risks. DNA mutations The new gene might be inserted in the wrong location in the DNA, which might cause harmful mutations to the DNA or even cancer.
What are the ethical issues of gene therapy?
The ethical questions surrounding gene therapy and genome editing include: How can “good” and “bad” uses of these technologies be distinguished? Who decides which traits are normal and which constitute a disability or disorder? Will the high costs of gene therapy make it available only to the wealthy?
How do genetics influence health and illness?
Understanding genetic factors and genetic disorders is important in learning more about promoting health and preventing disease. Some genetic changes have been associated with an increased risk of having a child with a birth defect or developmental disability or developing diseases such as cancer or heart disease.
Do your genetics decide what diseases you will acquire?
Changes in many genes, each with a small effect, may underlie susceptibility to many common diseases, including cancer, obesity, diabetes, heart disease, and mental illness.
Why is genetic information important?
All the information present in a cell, an organism possesses to survive is known as genetic information. It is important because it stores, processes and transmits biological data from generation to generation.
What does a genetics professional do?
A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.
Why do people feel angry after genetic testing?
In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested.
Why is prenatal testing dangerous?
The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus. Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results.
Can genetic testing determine if a person has inherited a disease?
Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder , how severe the symptoms will be, or whether the disorder will progress over time.
What is the use of genetic information to predict the risks and benefits of a medication?
Pharmacogenetics — the use of genetic information to predict the risks and benefits of a medication — could do just that. The idea is that your genes may provide helpful clues regarding which medication is best in your particular case. There are already examples of this, such as:
Does genetic testing reduce side effects?
Genetic testing could lead to fewer side effects, not only by directing the choice of medications but also through a reduction in the nocebo effect.
Is genetic testing expensive?
Many genetic tests are costly and it’s often unclear whether the benefits (which may be modest) are worth the expense. It’s possible that as genetic testing becomes more common and extensive, costs will come down; and as more genes are studied, the benefits of testing may become clearer (and, hopefully, more robust).
How to ensure autonomy in genetic testing?
One important way to ensure autonomy with respect to genetic testing is to provide adequate information upon which a person can make a decision whether or not to undergo testing. A proper informed consent in medicine generally involves the presentation of information about the risks, benefits, efficacy, and alternatives to the procedure being undertaken. In addition, recent cases and statutes have recognized the importance of disclosures of any potential conflicts of interest that the health care professional recommending the test may have, such as a financial interest in the facility to which the patient is being referred. In the genetics context, this would include disclosure about equity holdings or ownership of the laboratory, dependence on test reimbursement to cover the costs of counseling, patents, and so forth. It would also include disclosure of any planned subsequent uses of the tissue samples, even if such uses are to be anonymous.
Why do we need DNA testing?
In the law enforcement context, DNA testing is undertaken to attempt to identify criminal offenders. At least 17 states have DNA fingerprint programs for felons. 29 The armed services are collecting DNA samples from all members of the military, the primary purpose of which is to identify bodies of deceased soldiers.
Why is confidentiality important in medical field?
Confidentiality is meant to encourage the free flow of information between patient and physician so that the patient's sickness may be adequately treated. The protection of confidentiality is also justified as a public health matter, since ill people may not seek medical services in the first place if confidentiality is not protected. As a legal matter, confidentiality is generally protected in the doctor-patient relationship. However, genetic testing may not always occur within a doctor-patient relationship: a non-M.D. scientist may undertake the testing, or screening may occur in the employment setting. Moreover, it is not just the result of the test that raises concern about confidentiality. The sample itself may be stored (as in DNA banking or family linkage studies) for future use.
What is consent required for?
The consent of the patient is required to remove blood or tissue from his or her body, and also to perform tests, but it is important that the patient be informed of all the tests which are done and that a concern for the privacy of the patient extends to the control of tissues removed from his or her body. 10.
How many newborns are tested for metabolic disorders?
With genetic testing, however, the potential range of contexts in which it can be undertaken is large. Already, in the public health context, more than 4 million newborns are tested annually for metabolic disorders so that effective treatment can be started in a few hundred.
What is autonomy in medical terms?
The legal concept of autonomy serves as the basis for numerous decisions protecting a person's bodily integrity. In particular, cases have held that competent adults have the right to choose whether or not to undergo medical interventions. 2 Before people make such a choice, they have a right to be informed of facts that might be material to their decision, 3 such as the nature of their condition and its prognosis, 4 the potential risks and benefits of a proposed test or treatment, 5 and the alternatives to the proposed intervention. 6 In the genetics context, health care providers have been held liable for not providing the information that a genetic test is available. 7
What is autonomy in genetics?
Autonomy can be defined as self-determination, self-rule, or self-governance. Autonomous agents or actions presuppose some capacity of reasoning, deciding, and willing. Moral, social, and legal norms establish obligations to respect autonomous agents and their choices. Respect for personal autonomy implies that agents have the right or power to be self-governing and self-directing, without outside control. In the context of genetic testing and screening, respect for autonomy refers to the right of persons to make an informed, independent judgment about whether they wish to be tested and then whether they wish to know the details of the outcome of the testing. Autonomy is also the right of the individual to control his or her destiny, with or without reliance on genetic information, and to avoid interference by others with important life decisions, whether these are based on genetic information or other factors. Respect for autonomy also implies the right of persons to control the future use of genetic material submitted for analysis for a specific purpose (including when the genetic material itself and the information derived from that material may be stored for future analysis, such as in a DNA bank or registry file).
What do nurses need to know about genetics?
Nurses need the skills to gather family history, identify hereditary risk, and make appropriate referrals for genetic consultation and testing. During the genetic assessment process nurses can help patients understand ...
How to assess genetic risk?
To assess a patient’s genetic risk, you must understand the relationship of genetics and genomics to health, prevention, screening, treatment, and monitoring. Essential nursing competencies include basic knowledge of genetic and genomic principles, genetic resources, current research, and professional guidelines and recommendations. Consider genetic, environmental, and genomic influences and risks during physical assessments, when collecting personal and family health histories, and when analyzing this information. In addition, assess the patient’s knowledge and perceptions of genetic and genomic information, as well as his or her responses, and address any issues or concerns. In developing the care plan in conjunction with the patient, integrate clinical judgment, patient preferences, evidence-based research, and family implications to plan genetic- and genomic-focused care.
What are the standards for genetics in nursing?
The initial Scope and Standards for Clinical Genetics Nursing Practice was first published in 1998 after the American Nurses Association (ANA) recognized genetics as a nursing specialty. Then, shortly after completion of human genome sequencing, ANA published the Essentials of Genetic and Genomic Nursing: Competencies, Curricular Guidelines, and Outcome Indicators, which was endorsed by 47 nursing organizations. These guidelines challenge nurses to: 1 recognize how their personal attitudes about genetics might impact their practice 2 advocate for clients for genetic services and autonomous genetic decision-making 3 incorporate genetic and genomic information into their practices and regularly evaluate their competency 4 tailor genetic and genomic information to patients based on their culture, literacy, religion, and preferred language.
How is pharmacogenomics used in medicine?
Pharmacogenomics, the study of how a person metabolizes medications based on his or her personal genetic makeup, is one of the earliest applications of genetic and genomic research into clinical intervention. (See Genetic markers for drug response and function .) Pharmacogenomics has been most commonly used in psychiatry to determine drug choice and response, and in pain management to assess addiction potential. In addition, genetic testing can be used to tailor medication management to reduce and minimize side effects and promote treatment plan adherence.
Why is pharmacogenomics used in psychiatry?
Pharmacogenomics has been most commonly used in psychiatry to determine drug choice and response, and in pain management to assess addiction potential. In addition, genetic testing can be used to tailor medication management to reduce and minimize side effects and promote treatment plan adherence.
What is precision medicine?
Precision medicine (tailoring medical treatment to each patient’s individual characteristics) has become an important component of nursing practice. Research supports precision medicine as an evolving strategy for disease treatment and prevention that includes attention to an individual’s variability in genes, environment, and lifestyle.
When was clinical genetics first published?
The initial Scope and Standards for Clinical Genetics Nursing Practice was first published in 1998 after the American Nurses Association (ANA) recognized genetics as a nursing specialty.
Why is information important in genetics?
The information could dissuade individuals from having children and passing on the genetic defect. Knowing of a disorder or preventing the passing of a genetic disorder by a couple deciding not to have children could save large amounts of money for treatments often paid for by society.
Why did Americans fear the development of genetic testing and the enactment of mandatory testing?
Americans feared that the development of genetic tests and the enactment of mandatory testing would decrease individual rights to privacy and lead to discrimination. It was realised that insurance companies could require testing and either refuse healthcare coverage, decrease benefits, or increase premiums.
What is predictive testing?
The third type of genetic testing, predictive testing, is used to determine whether a person has a genetic mutation that will lead to a late onset disorder.
What are the three forms of genetic testing?
There are three forms of genetic testing: diagnostic, carrier, and predictive testing.
What can a physician do to help a patient make a decision?
Finally, if the physician is trained in genetic counselling, genetics, and ethics, he can help the patient to make a fully informed decision and to feel comfortable with properly defending that decision with regard to the rights of the patient herself and also to the rights of those affected by the patient's decision.
Why did African Americans view sickle cell testing as discrimination?
The African American community, bioethicists, lawyers, and the medical profession viewed this as discrimination because other populations were not targeted for other possibly debilitating diseases. Legislation was passed granting money to fund sickle cell programmes in states with voluntary testing.
When did genetic discrimination end?
Genetic discrimination continued until the 1970s, when several states in the US required mandatory testing for sickle cell disease among African Americans.2,6Because sickle cell disease is a recessive trait, carriers of the disease were identified and then notified of the risks of having children with another carrier.