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November 4, 1998

In the Same Boat

Author Affiliations

Columbia University College of Physicians and Surgeons

Columbia University College of Physicians and Surgeons

JAMA. 1998;280(17):1537-1538. doi:10.1001/jama.280.17.1537-JMS1104-5-1

Mr Smith shifts uncomfortably in his imitation leather seat. He glances at the other faces in the dimly lit waiting room, each bearing an expression of personal anguish. A nurse ushers Mr Smith into an examination room. Minutes later, there's a brisk knock on the door.

"Mr Smith?"

Mr Smith gazes up as the physician enters the tiny, sterile room. She shakes Mr Smith's hand with both of hers. Mr Smith notes a worn, gold "Humanism in Medicine" badge pinned to her lab coat.

"What can I do for you today?" inquires the doctor, her eyes fixed on Mr Smith's tense face.

"Well," says Mr Smith, working hard to collect his thoughts, "my mother died two weeks ago . . . she died of Alzheimer's. She was sick for a very long time. She seemed to deteriorate rather slowly. It was so hard on all of us. But that is not really why I am here. You see, I was reading about a new test that can tell whether a family member is at risk for developing Alzheimer's, and I thought I'd better take it. I have three kids and a loving wife and I worry about their future. I don't want them to go through what I did with my mom. She started getting ill when she was only 40. I have been really forgetful lately and I'm worried that I may have Alzheimer's, too. What should I do, Doctor?"

Within the last few decades, rapid advances in genetic technology have outstripped developments in medical therapy. While researchers are able to identify genetic predispositions to a growing number of disorders, such as Alzheimer and Huntington diseases, little can be done to treat patients found to be at risk. This disparity between ability to detect and ability to cure gives rise to a multitude of ethical issues. In considering whether or not to recommend that a patient undergo genetic susceptibility testing, the physician should examine legal and confidentiality issues, possible psychological repercussions, financial constraints, implications for insurability, and technical limitations associated with the test.

Legal and Confidentiality Issues

The legal implications of predispositional genetic testing are far reaching.1 Issues ranging from disclosure of test results to the ethical use and handling of biological samples are subject to legal scrutiny. Does the physician have legal duties regarding disclosure of the test results to family members? What constitutes adequate informed consent and follow-up counseling? Can a physician be found liable for not providing a test that might have allowed a patient to anticipate the onset of disease? To what extent is a physician responsible for a patient's maladaptive response to a positive test result?

Clearly, there are innumerable legal pitfalls associated with predictive genetic testing. However, many of them can be avoided if a sensitive, confidential, and preapproved protocol is followed. Such a protocol includes genetic counseling, disclosure of all relevant test information, informed consent, and avoidance of physician/investigator conflicts of interest in research study enrollment.

Psychological Consequences of Predictive Testing

Although some researchers argue that results from susceptibility testing can induce depression and suicidal ideation, others believe that testing may be beneficial. In a study of patients who were at risk for Huntington disease and underwent susceptibility testing, Wiggins and colleagues found that knowing the result of the predictive test, even if it indicated an increased risk of disease, reduced patient uncertainty and provided an opportunity for appropriate planning.2 They further noted that among those patients who tested positive for the altered huntingtin gene, none attempted suicide or required psychiatric hospitalization. These data suggest that the possible deleterious psychological effects associated with predictive testing are largely preventable. To minimize psychological trauma, physicians should assess psychological risk for all patients prior to testing.

Financial Constraints

As in the provision of many health care services, the decision to undergo genetic testing is partly financial. Who will pay for the test? Does the benefit outweigh the cost? Hessel Bouma III comments, "No society can afford to do all that medicine can do or all that it wants to do for all patients."3 While it is inevitable that lack of financial resources will make it difficult for some patients to pursue genetic testing, stratification of patients by risk will increase the availability of appropriate tests for high-risk groups. A clear discussion of the cost, predictive value, and indications for the test can help the patient and physician reach an agreement on whether or not to pursue testing.

Insurance Discrimination Based on Test Results

Post et al4 argue that if Medicaid is substantially curtailed, private, long-term health care insurance may become the principal means by which persons with Alzheimer disease and their families gain access to medical care. As a result, private insurance companies may deny coverage to persons at risk for Alzheimer disease. Even when the results of genetic testing are not available, insurers may seek to identify applicants at increased risk for disease. Although the logistical problems associated with implementing anonymous genetic testing are formidable, it is imperative that genetic information be handled in a manner that maximizes confidentiality.

Technical Limitations

Because no genetic test can foretell disease with absolute certainty, genetic test results must be interpreted cautiously. In the case of Mr Smith, his family history indicates a genetic risk for early-onset familial Alzheimer disease (FAD). Early-onset FAD represents fewer than 15% of all cases of Alzheimer disease.5 Studies have shown that approximately 50% of the early-onset Alzheimer disease patients have a mutation in the presenilin-1 gene on chromosome 14.4 The diagnostic accuracy of tests currently available for Alzheimer disease is reported to exceed 85%.4 Still, discretion is required in interpreting test results, since neither a positive nor a negative screen for Alzheimer disease provides definitive information about the eventual emergence of disease.

"What should you do?" asks the physician, echoing Mr Smith's question. She sighs as she places her clipboard on the table.

"You've been through a very long and painful ordeal with your mother. It must have been heart-wrenching to see her slip away without any solution from medical science. . . . The forgetfulness that you describe is most likely related to the stress that you have been under as you've been trying to juggle home life with three kids and a very ill mother."

Mr Smith nods slowly as he fixes his gaze on his shoe tassels.

"Your mother died of early-onset Alzheimer's disease, a disorder that is often inherited. It's true that we have some accurate screening tests for some of the most common genes that cause early-onset Alzheimer's, but I'm not sure if it's the best idea for you to be screened, especially while you are mourning your mother's passing. I want you to know that I will respect your decision to be tested, should you decide to do so, but I'd like you to schedule some pre-test counseling with me first. I would be happy to give you a full physical and neurological exam to assess your signs and symptoms when you come in for the counseling."

"Yes, that would put my mind at ease," states Mr Smith, making eye contact with the physician again.

"The genetic test is not covered by your health insurance, and it will cost you about $600. The test is confidential and anonymous, similar to an HIV test, and the results will not go on your medical record. . . . I suggest that you think about this decision for a while, let things settle down a bit in your personal life, and call me if you have any questions about the test or your health. Do you feel comfortable with that?"

"Well," Mr Smith sighs, "I think you're probably right . . .this test needs to be given some thought, and my forgetfulness is understandable considering the circumstances, right?"

The doctor smiles at Mr Smith as she places her hand on his shoulder reassuringly. She then turns and walks toward the door.

"Doctor!" blurts Mr Smith. "You forgot your clipboard!"

"Ah, yes," says the physician, smiling. "My memory is not what it used to be. Perhaps we are all in the same boat?"

Dickens  BM Legal issues in predictive genetic testing programs.  Alzheimer Dis Assoc Disord. 1994;894- 101Google ScholarCrossref
Wiggins  SWhyte  PHuggins  M  et al.  The psychological consequences of predictive testing for Huntington's disease.  N Engl J Med. 1992;3271401- 1405Google ScholarCrossref
Bouma  HDiekema  DLangerak  E  et al.  Christian Faith, Health, and Medical Practice.  Grand Rapids, Mich William B Eerdmans Publishing Co1989;
Post  SGWhitehouse  PJBinstock  RH  et al.  The clinical introduction of genetic testing for Alzheimer disease: an ethical perspective.  JAMA. 1997;277832- 836Google ScholarCrossref
Chen  CP Genetics of Alzheimer's disease: just how is molecular biology going to help Grandma?  Singapore Med J. 1997;38100- 101Google Scholar