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CANCER GENETICS: COUNSELLING, PSYCHOLOGICAL AND MEDICOLEGAL ISSUES
Prasad P Agashe, Shailesh V Shrikhande
Department of Surgery, Shrikhande Clinic Dadar, Mumbai.
INTRODUCTION
The role of the doctor lies in the prevention of genetic diseases through genetic counseling. Complexities of genetic counseling and testing as well as some of the psychosocial and legal ramification of identifying individuals with hereditary cancer risk are discussed in this article.
What is Cancer Genetic Counseling? [1]
It has been described as a communication process, which deals with human problems associated with the occurrence, or the risk of occurrence of a genetically inherited cancer in the family.
Types of Cancer Genetic Counseling (CGC) [2]
1.Brief counseling : This is done on patients who do not display evidence of hereditary cancer susceptibility.
2.Comprehensive counseling : This provides more in-depth assessment of the family history, attempts to characterize the pattern of cancer in the family, offers numeric risk assessment, and provides appropriate genetic testing accompanied by pre- and post- test counseling, psychosocial support, and tailored guidelines for medical management of cancer risk.
Who Should Be Counseled? [2]
1.Open door policy : Many genetic counseling services have an open door policy and physician referred or self-referred cases are admitted for counseling.
2.Focused policy : Some cancer genetic services focus on particular cancers associated with specific inherited cancer syndromes. For example breast, ovarian cancer and colorectal cancer risk management.
Genetic Counseling Team Structure [3]
Cancer genetic clinics should be located in tertiary academic medical centres with specialized staff.
This panel should consist of-
1.Specialized genetic counselor
2.Psychologist
3.Clinical oncologist
4.Bio-ethics expert
5.Legal expert
6.Consumer representative
Together they should help patients and their families through the complex psycho-social issues related to hereditary susceptibility to cancer risk.
Counseling Interviews
Counseling is done as a series of counseling interviews with the affected patient and his/her family members who are mutation carriers or at increased risk of developing hereditary cancer.
A flowchart of a sample risk assessment and counseling model1 is given in Fig. 1.
Fig1. Sample risk assessment and conseling model
1st Counseling Interview
This ascertains a patient’s primary concerns, and assesses their knowledge and risk perception. General education about cancer aetiology, including information about role of genes and cancer is presented.
Constructing a detailed pedigree, adding as many relatives with cancer as the patient can describe, is first important step. Specific models for risk assessment are currently being used for breast, ovarian and colon cancer. [4-6] This interview may include a physical examination.
2nd Counseling Interview
This is done after the first interview if the patient was referred for purposes of genetic testing, or desires genetic testing even when the chances of detecting a mutation are very low, detailed education about hereditary susceptibility may be required even if genetic testing is not warranted.
3rd Counseling Interview
When patients decline the option of genetic testing, numeric cancer risk information is discussed and patients are offered cancer risk management recommendations and options based on personal risk including family and medical history.
Some of the reasons expressed by patients and their family members for not opting for genetic testing are as follows:
• Knowing their mutation status would not predict when cancer would occur.
• Knowing their mutation status would cause concern for their children.
• Knowing their mutation status would cause problems with health insurance coverage.
• Knowing their mutation status would cause them persistent anxiety and a life of uncertainty.
4th Counseling Interview
This is done when the patient and family members opt to undergo genetic testing. At this time patients are given time to consider his or her ability to cope with the ramifications of genetic testing information, as well as the personal impact which genetic testing could have on his or her medical care.
An informed consent for genetic testing is taken which includes the following points [7] :
• The purpose of the test : If testing is part of a research study, the purpose, aims and design of the research study.
• Practical aspects of the testing, including cost, turnaround time, documentation of results.
• Predictive value of a positive, negative or indeterminate result, and corresponding cancer risk information.
• Options for cancer risk management in the event of a positive, negative or indeterminate result.
• Possible psychological implications of testing.
• Individualized assessment of insurance and employment discrimination risks.
• Alternatives to genetic testing, including the possibility of delaying decision-making.
5th Counseling Interview
Genetic testing is first initiated with an affected family member. The family members are then tested for this same mutation. Prior identification of the mutation in an affected relative rules out the possibility that a different and undetectable mutation is the real source of familial cancer risk.
After genetic testing results are made available, further counseling with tailored guidelines for cancer risk management is offered.
The results of the genetic test can either be [2] :
Negative Genetic Result
A true negative result means that there is no detectable mutant gene present. A negative test result may be erroneous since an undetectable mutation may still be present. Information about the sensitivity of testing must be obtained from the laboratory performing the testing to convey the chance of a false negative result.
Indeterminate Genetic Test Result
1.When the clinical significance of a genetic test result cannot be interpreted. This happens when the affected family member is not available for genetic testing. In the above case the original family mutant gene is not identified. So it is critical that the relative who undergoes genetic testing understands that even if the test is negative it should be considered indeterminate. So the family members still have to follow up with high risk screening guidelines.
2.When a genetic variant of uncertain significance is detected the result should be considered indeterminate. The laboratory is then unable to interpret whether the genetic variant is harmless and representative of a normal genetic variation from person to person.
Positive Genetic Test Result
This indicates the presence of a pathogenic mutation and the individual is at an increased risk of developing cancer. This cancer risk may vary from family to family due to other modifying genes, lifestyles or other epidemiologic risk factors.
Personalized high-risk surveillance and preventive strategies are then offered to the individual.
Follow Up Interview
Follow-up appointments are offered, and telephonic contacts are often made by the genetic counselors. This ensures adequate understanding of the clinical significance of the test result and risk management strategies. Clinical summary letters sent directly to patients are also helpful at reinforcing this complex information.
Some Important Websites [1]
The reader is advised to refer to the websites given below for further information regarding details of genetic counseling strategies.
• National Cancer Institute : Cancer Information Service
Phone : 1-800-4-CANCER
Website:http://cancernet.nci.nih.gov/genesrch.shtml
• National Society of Genetic Counselors
Phone : 610-872-7608
Website:http://www.nsgc.org/
• International Society of Nurses in Genetics
Phone : 603-643-5706
Website : http://nursing.creighton.edu/isong/
Psychological aspect of cancer genetics [8-10]
1.Negative psychosocial sequelae of genetic counseling and testing
2.Anxiety about carrying a gene mutation.
3.Increased risk for depressive symptoms in those who decline genetic testing even if there is a family history of cancer.
Employment discrimination and cancer genetic testing [11]
Employment discrimination can be a risk for those with cancer, as well as those at high risk of developing cancer. For example, an employer might not promote an employee based on the projected costs of a medical condition, and theoretically could define employees with high genetic risk as financially undesirable.
Medicolegal and ethical issues
Physicians whose patients may be affected by genetic cancer syndromes must be aware of issues of privacy and confidentiality of genetic testing.
Issues that arise for the doctor are:-
1.Is there a legal duty to inform the patient of the risk that a genetic cancer syndrome may be passed on to offspring?
2.Is there a duty to inform the patient’s family members of the risk?
3.Must the physician inform a patient of the availability of predictive genetic testing?
4.Must the physician disclose all possible treatment options (e.g. Prophylactic surgery) and the degree of details involved?
5.What special informed consent and insurance coverage issues are raised by prophylactic surgery?
SOME ANSWERS TO THE MEDICOLEGAL AND ETHICAL ISSUES
Some light can be thrown on the above issues by referring to some of the laws covering the legal aspect in the USA.
1.In many states, laws expressly prohibit genetic testing of persons or samples without prior informed consent. [12]
2.Disclosure of genetic information to third parties without written authentication is generally prohibited. [13]
3.A carrier of mutant gene should not be subjected to employment discrimination. [11,14]
4.Many of the states prohibit health insurance companies from requiring genetic tests as a condition of coverage or from using results of genetic tests to deny coverage. [15]
5.Individual genetic information and DNA sample are the property of the individual except when the information or sample is used for anonymous research. [16,17]
6.A health care provider is permitted to disclose information from a patient’s record where the health care provider has reason to believe that disclosure will avoid or minimize imminent danger to the health or safety of the patient or another individual. [18]
7.Direct disclosure to a family member is ethically appropriate only when
(i) The patient refuses to communicate information despite persuasion
(ii) When failure to give information has a high probability of resulting in imminent serious and irreversible harm.
(iii) Communication of the information will enable the family member to avert the harm. [1,2,12,19]
8.The reasonable patient standard requires that the physician disclose risks and benefits that the patient is likely to consider as significant in deciding whether to submit to proposed genetic testing. [7,19]
9.The physician may have a duty to re-contact the patient and relatives at risk if there is any newly discovered significance of the test results. [20]
10.Signing of informed consent includes description of the test, its purpose, and the names of the persons or entities to whom the result may be released. [1,2,7,19]
11.Prophylactic surgery (e.g. Bilateral Mastectomy) for high-risk patients is controversial but can be offered as a treatment choice for a small group of high-risk patients. [21]
Insurance coverage issues [15,22]
1.Many insurance companies in the USA exclude prophylatic surgeries from insurance coverage. The argument is based on the fact that having a mutant gene does not constitute an illness or disease. The courts and the legal definition on this are still ambiguous.
2.Experimental treatments face the uncertainty of being excluded from coverage by insurance companies.
CONCLUSION
Genetic counseling services have undoubtedly become a part of the management of a surgical oncology patient and for mutation carriers. Careful attention must also be paid to the current limitations, uncertainties, legal and psychological implications of this extremely complex but promising medical service.
REFERENCES
1.Jili E Stopfer. Genetic counseling and clinical cancer genetic services. Seminars in Surgical Oncology June 2000; 18 (4) : 347-56.
2.Schenider KA. "Counseling about cancer : strategies for genetic counselors". Dennisport, MA; Graphic Illusions. 1994.
3.Calzone KA, Stopfer J, Blackwood A, Weber BL. Establishing a cancer risk evaluation program. Cancer Pract 1997; 5 : 228-33.
4.Claus EB, Risch N, Thiompson ED. Autosomal dominant inheritance of early onset breast cancer; implications for risk prediction. Cancer 1994; 14 : 1730-40.
5.Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2; correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998; 16 : 2417-25.
6.Wijnen JT, Vasen HF, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998; 339 : 511-18.
7.Geller G, Botkin JR, Green MJ, et al. Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent (Review). JAMA 1997; 277 : 1467-74.
8.Croyle RT, Smith KR, Botkin JR, et al. Psychological responses to BRCA1 mutation testing; preliminary findings. Health Psychol 1997; 16 : 63-72.
9.Prochaska JO, DiClemente CC, Norcross JC. In search of how people change. Applications to addictive behaviours. Am Psychol 1992; 47 : 1102-14.
10.Redelmeier DA, Rozin P, Kahneman D. Understanding patients decisions. Cognitive and emotional perspectives (Review). JAMA 1993; 270 : 72-76.
11.Rothstein MA, Gelb BD, Craig SG. Protecting genetic privacy by permitting employer access only to job-related employee medical information : analysis of a unique Minnesota law (Review). Am J Law Med 1998; 24 : 399-416.
12.Mulholland WF II, Jaeger AD. Genetic privacy and discrimination a survey of state legislation. Jurimetrics 1999; 39 : 317-26.
13.McKinney. NY Civ Rights Law. 1999; 79-1.
14.Vernon’s. Tex. Labor Code Ann. 1999; 21 : 401-2.
15.Genetic testing and insurance. The Ad Hoc Committee on Genetic Testing/Insurance Issues. Am J Hum Genet 1995; 56 : 327-31.
16.Or Rev Stat 659, 715 (1997) : Del Code Ann Tit 16 1225 (1999). NJ Stat Ann 1998; 10 : 5-46.
17.Moore V. Regents of University of California. 793 p. 2d 479 (Cal 1989), Cert. Denied. 499 US 936 (1999).
18.Pate V Threlkel, 661 So. 2d 278 (Fla. 1995).
19.Cooper EB. Testing for genetic traits : the need for a new legal doctrine of informed consent. MD L Rev 1999; 59 : 346-422.
20.Andrews LB. Torts and the double helix : malpractice liability for failure to warn of genetic risks. Hous L Rev 1992; 29 : 149-84.
21.Lopez MJ, Porter KA. The current role of prophylactic mastectomy (Review). Surg Clin North Am 1996; 76 : 231-42.
22.Wolf D. Who should pay for "experimental" treatments? Breast cancer patients v their insurers. Am Univ Law Rev 1995; 44 : 2029-2107.
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