Tuesday, May 01, 2007

Genetic Testing and Liability

The hypothetical question is about a famous television personality who is thinking of undergoing BRCA1/2 mutuation testing and making a documentary special about it in order to raise awareness. She has three daughters (who react differently, one of which has kids of her own) and two sons. The specific details ought to be clear from the answer itself.

The most immediate issue that Flora presents is why people undergo genetic testing and when is such genetic testing warranted. Genetic testing has the ability to confirm whether one suffers from a particular deleterious genetic abnormality (carrier or otherwise) and individuals tend to do so if there is any indication in their family history of heightened susceptibility. But the warranting of any genetic test is via its efficacy which is determined by its clinical validity. “Clinical validity reflects both the sensitivity of the test—the proportion of affected people with a positive test—and the penetrance of the mutations identified by the test. Penetrance refers to the proportion of mutation carriers who will manifest the disease”.[1]

The most important thing to note is that estimates of the lifetime risk of breast cancer that is associated with BRCA 1 and BRCA 2 ranges from 26 percent to 85 percent. While the risk for ovarian cancer is elevated, it is to a lesser extent than for breast cancer although the risk estimates similarly vary. Nevertheless, given her advanced age, and her high risk family history, it would be rational to get tested for the BRCA mutations. This is born out by the 2005 U.S. Preventive Services Task Force’s, “Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility” and its summary of recommendation which gave a very low recommendation for routine testing but gave a much higher grade for referring women with “increased-risk family history) for genetic counseling as they believed it “allows informed decision making about testing and further prophylactic treatment”.[2]

The second issue is how genetic testing (for various genetic diseases) ought to be portrayed in the media and here the fear is that there is some possibility that it might be potentially misleading. Areas of concern include the BRCA test’s clinical utility not being recommended as a routine test. Furthermore, a positive test merely means increased risk (and not a certainty) of contracting breast and/or ovarian cancer and conversely, a negative test does not mean a person is safe from breast or ovarian cancer. But if the three episode special is done properly and in conjunction with genetic counseling, this could be a very useful tool for women at high risk and for generally educating the public and even dispelling possible misconceptions, myths, prejudices and stereotypes that the public may have about carriers of the BRCA mutation. In summary, this may well be a great educational opportunity if properly done but it could also worsen the situation by raising awareness but not the public’s understanding of the issue and generating fear and also increasing the negative psychological externalities that carriers will suffer.

Laura and her husband’s concern about the loss of privacy and the psychological effect on her young daughters is a fair one. First, given the hereditary nature of genes, it logically means that “[a] genetic diagnosis often indicates that other family members are at risk for the same condition.”[3] Second, just as people have the right to learn of their medical condition, they too should, prima facie, have a right to know of their medical condition on their own terms,[4] therefore they have the right to insulate themselves from Laura’s results. Admittedly, the situation here is greatly simplified in that both husband and wife are of the same mind. It may be that there are conceivable circumstances whereby a person (or their wards) ought to be informed regardless of their wishes e.g. where a genetic disease will manifest itself with devastating results unless there is early intervention and even possibly where the parents disagree with each other. But given that the BRCA mutation “merely” presents itself as a increase risk and one with a huge variance at that, the impetus for informing without the person’s consent is greatly diminished.

If Laura is known to be Flora’s daughter, there is a good chance that she would be linked to Flora’s condition. This would include the associated societal opinions about carriers of the BCRA mutation. Her daughters might well be similarly “tainted” and suffer negative psychological effects from the very knowledge of their (possible) “genetic curse” as well as ostracization or stigmatization due to ignorance, all of which would be exacerbated by their youth/immaturity. In fact, given their minor status and the fact that they are not the ones being tested, it cannot be said that they have assented or much less consented to being “tested”. Furthermore, since they are years away from any possible preventive treatment and decades away from any phenotypic manifestation, therefore knowledge that they have the BRCA mutations would simply weigh on their minds for these years to come without any real positive externality.

Lisa’s plans to skip testing, but increase her frequency of mammograms appears to be very sensible. Currently, mammograms are still the best way of cancer screening i.e. it detects as oppose to predicts manifestation of cancer. Even if she had tested positive for BRCA1/2 mutations and is thus at increased risk of early onset cancer, starting frequent mammograms would have been likely anyway and is the best medical response short of radical preventive surgery. Given that the background risk of breast-ovarian cancer is very high relative to other types of cancer and her family history, so even without the BRCA mutation, it is still a good decision. Plus medical information as opposed to genetic information poses less of an issue to familial privacy which should allay Laura type fears and concerns.

There are grounds for Lisa’s worry about being stigmatized in terms of future employment opportunities in the broadcasting industry. But in terms of pure job discrimination that is what the law through the Anti-Discrimination Act (ADA) seeks to prevent. There is little that one can do about private discrimination except personal and broad based societal education (which Flora’s three-part special might achieve). But it could be said that her proactive stance with regards to regular mammograms (other than it being private medical information) would also serve to allay the fears of her bosses since early detecting of cancerous breast masses (Stage I-II) have very high cure rates and resulting prognosis.

It appears that Flora may be able to restrict Linda should she decide to undergo a prophylactic bilateral mastectomy. The conflict between Flora and Linda presents the general difficulties of who ought to make the medical decision for a minor. The law generally presumes that minors are not capable of competent in making their own decisions and therefore cannot decide without parental consent to undergo a particular medical procedure. This is subject to the “mature minor rule” which recognizes that some adolescents “as capable of understanding the consequence of some medical decisions”,[5] but these rules are circumstantially circumscribed to situations in which “the state has an interest in the adolescent’s seeking medical attention that might not be sough if the problem were disclosed to the parent” e.g. reproductive rights and sexually transmitted diseases.[6] Another exception is that of the “emancipated minor” but that treats minors as adults by virtue of the state recognizing their “adult” status as a result of certain situations, none of which are applicable here.[7]

What complicates matters is a) the relatively advanced age of Linda (16), b) the low penetrance of BRCA mutations and c) the radical and extreme prophylactic surgery Linda wishes to undergo. As things stand, the AAP does not support genetic testing of adolescents to predict late onset disorders “when the genetic information has not been shown to reduce morbidity and mortality through interventions initiated in childhood.[8] This is eminently sensible especially in this situation given the irreversible nature of such a surgery, the low penetrance,[9] plus the fact that it is a mere 2 years to full adulthood and that this time-lag would not adversely affect Linda’s condition. But if it could be shown that Linda is as competent and fully cognizant of the situation as any adult and would suffer from tremendous psychological trauma whether through the uncertainty of not being tested or not having the surgery, a case could be made that in these very specific circumstances, Flora’s wishes should not be given precedence over Linda’s.

The sons’ lack of concern is indicative of their ignorance and unfortunately probably that of wider society’s as well, regarding male risk of contracting breast cancer. Albeit small, this risk still constitutes 1% of all cancers afflicting males. But further, according to the American Cancer Society, it appears that the BRCA mutations have a similar effect on the risk of breast cancer in male carriers but also an increased risk for prostate and skin cancer.[10] Given that mammograms are not generally part of any male’s routine medical examination, there is a much stronger case here for genetic testing particularly as a positive result might signal the need for more regular medical tests. This is so whether it is for breast cancer or simply that of prostate cancer because of the elevate risk the BRCA mutation poses.

The scenario Flora’s daughter-in-law presents is one familiar in prenatal genetic testing and screening i.e. the use of such testing to choose a healthy baby, by terminating fetuses with genetic abnormalities. The moral issue here is whether a positive test for a BRCA 1/2 mutation warrants an abortion given that it is merely presents an increased risk of breast and ovarian cancer which is hardly a debilitating disease and does not impose any particular hardship on the parents unlike babies born with cystic fibrosis or Down syndrome.

Alternatively, even with an increased risk for early onset breast or ovarian cancer as with a BRCA 1/2 mutation, nevertheless, there is an absence of the sort of massively shortened life span and poor quality of life that is presented in cases of incurable diseases such as thalassemia major or Huntington’s Disease which strongly factors into decisions to terminate the pregnancy. In these latter situations, there are considerations weighted in favour of terminating the pregnancy on the basis of the emotional guilt that parents suffer when they deliberately birth a child who is likely to die in their own lifetime. This inversion of the “natural” order of things can bear heavily on the minds of parents and generate such strong negative emotions e.g. sorrow and guilt that it affects their ability to properly bond with their other children and can put a strain on the marriage and the family upon the child’s death. Similarly the surviving “normal” siblings might well suffer from survivor’s guilt with repercussions on their capacity to form healthy familial bonds. In contrast, a BRCA 1/2 mutation does not appear likely to generate those sorts of negative sentiment as it simply presents an increased risk of cancer, while admittedly of the sort that is early onset, that can be cured or even prevented.

There is further, no legal liability to avoid the pregnancy and the birth of the child on the basis of a “wrongful birth” suit i.e. an action by the child for having been born and forced to live with the disabilities and disadvantages of her birth. Even if one ignores the tiny number of jurisdictions that recognize such a cause of action,[11] it hardly presents a case whereby a reasonable person might well say that the suit ought to be successful because “non-life” is preferable to the “life” the plaintiff is living.[12]

This also highlights the importance of genetic counseling. On the facts, we are given no indication of why Laura’s daughter-in-law might want to terminate a pregnancy on the basis that the fetus has a BRCA mutation. If her decision is made on some erroneous understanding of the consequence of having such a mutation to the child, then genetic counseling is manifestly important is providing such information that she can make an informed decision as to the status of her pregnancy such that she does not make a decision she will later regret.

[1] Wylie Burke, Genomic Medicine: Genetic Testing, 347 New Eng. J.Med. 1867 (2002) extracted in Kuszler et. el., Genetic Technologies and the Law, (Caroline Academic Press, 1st ed.), p. 605-610 at 607

[2] http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm , accessed on Feb 08 2007

[3] Wylie Burke, supra n. 1, at 606

[4] Personal medical information after all is one of the “zones of privacy” recognized by the US Supreme Court and also the Common Law’s general recognition that one may refuse life-saving medical treatment.

[5] American Society of Human Genetics/American Cllege of Medical Genetics, Points to Consider:

Ethical, Legal, and Psychosocial Implications of Gnetic Testing in Children and Adolescents, 57 Am. J. Hum. Genet. 1233 (1995) in Kuszler, supra, at p. 624-634 at 631

[6] Ibid.

[7] Ibid.

[8] See Kuszler, supra, at p. 635

[9] Thereby requiring more evidence to establish the efficacy of intervention to reduce risk, see Burke, supra, at p. 608

[11] Only 3 jurisdictions allow such a claim and California prohibits a child from suing her parents

[12] See e.g. Turpin v. Sortini, 643 P.2d 954 (Cal. 1982)

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