Genetic Disorders and the Fetus. Группа авторов

confidence, would govern further action. If, however, testing of the misattributed partner has genetic implications, nondisclosure becomes legally untenable.

      Confidentiality and trust

Genetic counseling and testing always reveals much more about the patient's health status and often reveals risk information applicable to other family members. Ethical codes of practice enunciated by the American Medical Association (AMA) Code of Medical Ethics,³¹⁵ the American Society of Human Genetics,³¹⁶ the National Society of Genetics Counselors,³¹⁷ and the President's Commission for the study of Ethical Problems in Medicine³¹⁸ have uniformly declared that it is impermissible to disclose confidential information without consent. While patient confidentiality was always thought of as inviolate, all^315–318 recognize exceptional circumstances. However, the promulgation of the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule (2003)³¹⁹ permits disclosures of health information if the individual to be warned is the subject of a threat of physical harm. This position harkens back to the infamous Tarasoff case in which an individual disclosed to his psychotherapist his intention to murder a former girlfriend who had spurned his affections.³²⁰

      Much of the disclosure quandaries arise as a consequence of advances in the analysis of DNA. Relatives of a proband who is determined to be a carrier of a serious monogenic disorder or is actually affected, once informed, may be able to take life‐saving measures (e.g. long QT syndrome, colon cancer). For colorectal cancer there is evidence that over 50 percent of families at risk do not receive the necessary information.^{321, 322} Those in their reproductive years could choose options that include prenatal genetic diagnosis or preimplantation genetic testing. There are also relatives who exercise their right not to know, especially for degenerative neurological disorders for which no cure or effective therapy exists. Disclosure to third parties, other than relatives, also includes employers, insurance companies, and schools. It is hoped that the confidentiality of the physician–patient relationship and the patients' right to privacy and personal autonomy remain sacrosanct. The AMA has affirmed the importance of keeping genetic information confidential.³¹⁵

      Geneticists and genetic counselors may argue that they have no patient relationship with relatives in question. There is, however, a moral imperative to care. Practical issues inevitably supervene. If the patient is unwilling to transmit the information, the provider is stymied and cannot be expected to launch a search for the relative(s). Given the wide dispersal of families, frequently noted limited intrafamilial communication,³²³ caregivers are left with the requirement to indicate in writing the need and importance for the patient to transmit the vital information.

      Next‐generation sequencing discovery of secondary findings applicable to the patient may also be of potential importance to close relatives (e.g. a mutation in BRCA1 or BRCA2). In noncohesive noncommunicating families (sadly common), all good intentions may then come to naught. Some have argued that providers may owe a duty of care to relatives,³²⁴ even though an international consensus holds that individuals have a moral obligation to communicate genetic information to their family members.³²⁵ In France, a law requires direct disclosure to relatives about genetic risks of any serious disease that can affect their health.³²⁶

      However, faced with an intractable patient, some guidance about disclosure is reflected in a statement issued by the American Society of Human Genetics in 1998.³¹⁶ When serious and foreseeable harm to at‐risk relatives can be anticipated, when the disorder is preventable or treatable, or when reduction of risk through monitoring is achievable, disclosure is seen to be permissible. “The harm that may result from failure to disclose should outweigh the harm that may result from disclosure.” In practice, few geneticists appear to have warned at‐risk relatives without patient consent. The vast majority of medical geneticists who decided not to warn such relatives were concerned by patient confidentiality issues and legal liability.³²⁷

      Timing of genetic counseling

      Today, more than ever before, genetic counseling before conception or marriage³²⁸ may provide opportunities for carrier detection, prenatal diagnosis, preimplantation genetic testing, or the presentation of other important options noted earlier. This is the time to review the family history, although it is startling that so many couples know so little about their relatives. Therefore, the optimal time to initiate counseling is not during pregnancy. Counselees whose first antenatal visits occur after the second missed menstrual period miss the critical period of organogenesis and patients referred well after conception have lost almost all their options except for selective abortion. Given the 70 percent protection afforded by periconceptional folic acid supplementation against the occurrence of an NTD^{329, 330} (see Chapter 10), there is a need to advise women about the importance of preconception care.

Confronted by a fatally malformed newborn, the physician may attempt to counsel a couple on the very day of the birth of such a child or before the mother's discharge from the hospital. Although communication and support are both vital during those fateful days, the physician needs to recognize the great difficulty that anguished patients would have in assimilating or comprehending even the essence of any counseling.^{279, 331, 332} The physician/counselor should share with the couple his or her awareness that it is difficult to remember all the important information in the face of emotional upset and that it would be normal and expected for them to raise all the same questions some weeks later, when the entire subject could be fully covered. Support for the parents should continue to be available for many months.

      Parental counseling

      Physicians/counselors have a duty to convey information about the known options, risks, benefits, and foreseeable consequences^203–205 to couples with increased risks of having children with genetic disorders. Such a duty may be difficult, if not impossible, to fulfill if only one member of the couple attends genetic counseling. The issues are usually complex and are frequently compounded by feelings of guilt and by ignorance, family prejudices, religious obstacles, fear, and serious differences of opinion between partners. Hence, when possible (at the time the appointment is made would seem to be best), the necessity that the couple attend together should be emphasized. Physicians/counselors have often seen an extremely anxious parent attend counseling alone and then have learned later of the counselee's incorrect interpretation to the partner, lack of appreciation of the true risk figures, and unnecessary emotional chaos. Not even letters written to couples after the counseling session³³³ (a recommended procedure, to summarize the essence of the counseling provided) can safely substitute for face‐to‐face discussions with both, allowing for questions and interchange about the issues and an opportunity to examine the partner.

      Genetic counselors should be cognizant of the complex interactive factors involved in parental reproductive decision making. Frets³³⁴ confirmed the importance of the burden of the disease in question and found that the interpretation of risk (high or low) and the wish to have children were paramount factors. The absence of personal experience of the disease was also found to be a significant influence. Frets identified a number of factors that were independently and significantly associated with problems experienced by 43 percent of counseled couples. These included no postcounseling support, recognition of high risk, disapproval by relatives, having an affected child, and decisions not to have a (or another) child. Due diligence is necessary for the partners of genetic disease carriers, who clearly experience significant psychologic distress.³³⁵

      Counselee education

      Hsia et al.³³² emphasized that genetic counseling is an educational process in which the counselee acquires a set of facts and options. Fraser's²⁶³ essential message was that genetic counseling does not involve telling families what they should do but rather what they can do. We maintain that members of the health professions