Precision medicine encompasses disease treatment, prevention, and risk stratification that considers individual genetic variations. This personalized approach includes:
- Predictive genome testing done in asymptomatic individuals to determine whether an individual is at increased risk for disease
- Diagnostic testing done to rule out or confirm a genetic condition, based on clinical characteristics in an affected individual
- Pharmacogenomics for more focused prescribing
- Molecular recognition of tumors to enhance therapy
- Whole-genome sequencing to determine an entire genome for genetic mutations.
- Precision medicine is not flawless, and raises several issues, such as patient and physician education, counseling, privacy, confidentiality, cost, patient’s best interests, and legal matters.
Genomic testing may predict diseases and susceptibility without the ability to improve therapeutic measures for prevention or cure. Patients should be educated about the benefits, risks, limitations, and outcomes of genomic testing. A referral of the patient to a clinical geneticist or genetic counselor is the most prudent path given that physicians are not all regularly trained and educated on this subject matter.
Risks, benefits, limitations, and cost of testing must also be discussed with patients prior to testing. Unravelling data about uncertain or incidental findings could be detrimental to patients and their families by causing anxiety or a negative impact on well-being. Furthermore, the labeling or misuse of information by employers, insurers, or other institutions should be fully understood by the patient.
Many state and federal governments are enforcing rules on access by employers and insurers to genomic information. The Genetic Information Nondiscrimination Act of 2008 was designed to prevent discrimination in health insurance and employment based on genetic data. Patients should be well-informed about testing and disclosure of genetic information.
Q-12 The patient has a strong family history of breast cancer. She requests to perform BRCA genetic test to see if she has an increased risk for breast cancer. The patient’s employer is requesting a copy of any genetic testing done on this patient.
A-provide information only if the result is positive
B-refuse to provide information
C-discuss the matter with your attorneyD-provide the employer with requested information.
RESEARCH IN MEDICAL PRACTICE
Medicine is not an exact science as in physics and math. Every patient is different and what may be an effective treatment for most of the population, may have side effects for the rest. Even the most widely accepted treatments must be monitored and evaluated to establish safety and efficacy.
All physicians make use of the results of medical research in their clinical practice. To maintain their competence, physicians must keep up with the current research in their area of practice through Continuing Medical Education. Even if they do not engage in research themselves, physicians must know how to interpret the results of research and apply them in in practice. A familiarity with research methods is essential for competent medical practice.
The most common path of research for practicing physicians is the clinical trial. Before a new drug can be approved by governmental agencies it must undergo extensive testing for safety and efficacy.
Laboratory studies followed by testing on animals, if proven promising then the four phases of clinical research, follow:
• Phase one research, usually conducted on a relatively small number of healthy volunteers, who are often paid for their participation, is intended to determine what dosage of the drug is required to produce a response in the human body, how the body processes the drug, and whether the drug produces toxic or harmful effects.
• Phase two research is conducted on a group of patients who have the disease that the drug is intended to treat. Its goals are to determine whether the drug has any beneficial effect on the disease and has any harmful side effects.
• Phase three research is the clinical trial, in which the drug is administered to many patients and compared to another drug, if there is one for the condition in question, and/or to a placebo. Where possible, such trials are ‘double-blinded’, i.e., neither research subjects nor their physicians know who is receiving which drug or placebo.
• Phase four research takes place after the drug is licensed and marketed. For the first few years, a new drug is monitored for side effects that did not show up in the earlier phases. Additionally, the pharmaceutical company is usually interested in how well the drug is being received by physicians who prescribe it and patients who take it.
PRINCIPLE ONE: Minimizing the risk of harm
PRINCIPLE TWO: Obtaining informed consent
PRINCIPLE THREE: Protecting anonymity and confidentiality
PRINCIPLE FOUR: Avoiding deceptive practices
PRINCIPLE FIVE: Providing the right to withdraw
The significant number of ongoing trials required seeking and enrolling larger numbers of patients to meet the statistical demands of the trials. Those in charge of the trials now rely on many more physicians, often in different countries, to enroll patients as research subjects.
Medical research is a well-funded enterprise, and physicians are sometimes offered considerable rewards for participating. These can include cash payments for enrolling research subjects, equipment such as computers to transmit the research data, invitations to conferences to discuss the research findings, and co-authorship of publications on the results of the research. The physician’s interest in obtaining these benefits can sometimes conflict with the duty to provide the patient with the best available treatment. It can also conflict with the right of the patient.
The ethical values of the physician – compassion, competence, autonomy – apply to the medical researcher as well. So, there is no inherent conflict between the two roles. If physicians understand and follow the basic rules of research ethics, they should have no difficulty participating in research as an integral component of their clinical practice.
One of the more controversial requirements of a medical research project is its contribution to the well-being of society in general. It used to be widely agreed that advances in scientific knowledge were valuable in themselves and needed no further justification. However, social value is an important criterion for approval of a project.
Informed Consent, the form being signed must involve a thorough oral explanation of the project and what it will mean to the research subject. Research subjects should be informed about freedom to withdraw their consent to participate at any time.
Q-13 A family practitioner in a rural town, is approached by a contract research organization to participate in a clinical trial of a new non-steroidal inhaler for asthma maintenance treatment. She is offered an amount of money for each patient that she recruits for the trial.
The C.R.O. representative assures her that all approvals have been obtained. Dr. has never participated in a trial and is eager to start. What should have been the appropriate action?
A-The doctor should not have accepted without ensuring that all the requirements for ethical research are met.
B-She should have reviewed the study protocol reviewed by ethics committee C-The doctor should have asked for advice from colleagues familiar with research
D-She should always keep the patient’s best interest in mind. If a patient is already benefitting from a treatment, assigning a patient to a placebo arm is unethical.
E-All the above
As with patients in clinical care, research subjects have a right to privacy about health information.
Physician-patient relationship is different from the researcher’s role in the researcher- research subject relationship, even if the physician and the researcher are the same person. The physician role must take precedence. The physician must be prepared to recommend that the patient not take part in a research project if the patient is doing well with current treatment and the project requires that patients be randomized to different treatments or to a placebo. Only if the physician, on solid scientific grounds, is truly uncertain whether the patient’s current treatment is as suitable as a proposed new treatment, or even a placebo, should the physician ask the patient to take part in the research project.
Honest Reporting of Results
There have been many recent cases of dishonest practices in the publication of research results. Such practices may cause great harm to patients, who may be given incorrect treatments based on inaccurate or false research reports
Prevention of unethical research, or to expose it after the fact is an obligation. Whistleblowing is not always appreciated or even acted on, and whistle-blowers are sometimes punished or shunned for trying to expose wrongful acts. Government regulators are noticing the need to detect and punish unethical research and appreciate the role of whistle-blowers in reaching their targets.
Q-14 An 84-year-old Alzheimer’s patient has been asked to participate in a clinical trial for a new drug designed to help improve memory. You were present when the clinical investigator obtained a signed informed consent from the patient a few days ago. Today when you see the patient and ask her about the study, she looks at you with a blank stare and has no idea what you are referring to.
What should be your next step?
A-The signed informed consent for the clinical drug testing is doubtful and should not proceed.
B-Contact the primary investigator to discuss the patient’s participation in the trial.
C-A surrogate can give consent for her participation if the clinical trial is truly deemed to be in her best interests.
D-All the above are correct.
Q 15 Preliminary analysis of results of a large clinical trial show that there were twice as many participants in the experimental group with gastrointestinal manifestations compared to the control group. Three of the cases required hospital admissions. However, the preliminary analysis reveals that there may be a moderate benefit with the new drug.
What should be done?A. The adverse events are not serious enough to report.
B. The adverse events should be reported to the Data Safety Monitoring Board, and the serious adverse events must be reported to the IRB.
C. The large clinical trial should be stopped immediately.D. Report in detail all the adverse events after completion of trial.