Clinical Genetics Society

Clinical Governance Subcommittee  

Paper 1 (Version A, 5/7/2001) Follow-up and recall in clinical genetic practice

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Replies to: Dr Helen Hughes (Chair of subcommittee) Institute of Medical Genetics, Cardiff CF14 4XW

Tel: 01745 534447 Fax: 01745 534431 e-mail: [email protected]

Clinical geneticists chose to follow those affected individuals where they believe they may significantly influence diagnosis and management. With the consent of the original consultand, follow-up in clinical genetic practice may also include extended family members who may be at risk (or who have concerns about their risk) of developing a disorder or of transmitting it to their children. Plan for follow-up needs to be explicitly recorded in the patient chart or letter so that confusion regarding responsibility between various medical professionals and the family is avoided. Families who have been discharged from follow-up can be recalled if further information relevant to genetic management becomes available. 

1. To complete initial assessment e.g. disclosure of diagnosis or of investigation results, further counselling.

2. If no diagnosis is made, selected individual may be seen for re-evaluation given evolution of phenotype, availability of new investigations, and recognition of new syndromes.

3. Further support and counselling e.g. if poor understanding or if there are other issues which may be interfering with the communication process. 

4. Planned staged management as in predictive testing counselling protocols (e.g. Huntington disease).

5. Follow-up initiated by family e.g. further questions, pre-natal testing.

6. Active medical management in some specialized circumstances - this activity needs to be distinguished from the more usual role of providing a clinical genetic service 

7. With the family's consent, follow-up can be arranged in order to facilitate the geneticist's own learning and for specific research purposes.

8. Health surveillance (see below - a)

9. Active recall of discharged families because of availability of new genetic knowledge (see below - b)

10. Inclusion on a genetic register (see below - c)

11. Contact with relative at risk (see below - d)

(a) Health surveillance (8 above) Clinical geneticists strongly support the concept of health surveillance and some, depending on clinical expertise and interest, may decide to undertake a coordinating role. The decision to participate in aspects of health surveillance of patients with multi-system genetic disorders usually occurs in conjunction with other medical specialists. This activity needs to be coordinated through the establishment of appropriately-funded and supported specialty clinics e.g. Marfan, muscular dystrophy. (Back)

(b) Is there a duty to recall discharged families? (9 above) In principle clinical geneticists feel an obligation to recall discharged families for further counselling should new information or genetic tests become available through advancing knowledge. However, in practice, this type of recall or follow-up is becoming impossible to implement as the speed of availability of new information about the vast number of genetic disorders has now outstripped the resources available to implement practice in most, if not all, clinical genetic centres. Consequently, in the absence of an unequivocal legal opinion re duty to recall in these circumstances, and the lack of an imperative amongst commissioners of genetic service to prioritise this issue with increased resources, clinical geneticists and families together must share the perceived obligation to re-contact. Currently, it appears that practice has evolved so that most clinical geneticists indicate to families that the information given to them is the most accurate available at the time of genetic counselling but that new scientific information becoming available in the future could alter understanding of the disease process and odds of recurrence amongst family members. Families and referring physicians therefore should be made aware of possible future changes and encouraged to re-contact the genetic service if reproductive decision is postponed or if they have added questions in the future. (Back)

(c) Follow-up as part of inclusion on a genetic register (10 above) Genetic registers were first established in the UK in the late 60's in order to achieve complete ascertainment of particular diseases and, by proactive contact, to have a role in their prevention. In centres where registers currently exist, they have developed to be a tool that facilitates review and re-contact particularly focused on the time at which individuals at potential risk could benefit most from information related to family planning. Occasionally there is a blurring between the function of a regular clinical chart review, a follow-up system, organized surveillance and the use of a genetic register. It is recognized that where registers exist, they must be appropriately resourced so that data accuracy can be maintained by regular family contact, consent for inclusion and confidentiality ensured and the process of re-contact made explicit. Decisions about the financial support of registers currently in use and the addition of new disorders must be taken in conjunction with commissioners of genetic services. (Back)

(d) Duty to contact relatives at risk (11 above) In contrast to other tertiary care physicians, clinical geneticists feel that they have a responsibility to offer services to extended family members who may be at risk of developing a disorder or of transmitting it to their children. This responsibility is reflected in the tendency amongst geneticists to think in terms of "families" rather than "patients". Contact with relatives usually is made only with the consent and co-operation of the index patient / family. In the vast majority of instances, the index patient / family will undertake the responsibility of informing relatives with whom they are in contact of their potential increased risk so that they can themselves initiate contact with the genetic service in their locality for further assessment of their genetic status. Often letters, which outline the genetic information, are provided to the index patient / family to pass on to their relatives. Therefore, in most circumstances, the responsibility to offer genetic information to relatives at risk is shared between the geneticist and the index family. However, difficulties occasionally arise if the index patient / family either actively or passively refuses to inform their relatives of their potential risk of developing and / or transmitting a specific genetic disorder. In many of these instances the difficulty can be resolved if the situation is handled with patience and understanding on the part of the counselling geneticist - often reluctance to contact is based on anxiety about causing worry and distress amongst members of the extended family or because of perceived inability on the part of the consultand about how to inform their relatives of potentially distressing information.
What then is the obligation of clinical geneticists when they are left in possession of information which may have a bearing on the medical and genetic well being of relatives and where permission to contact has been denied? This issue previously has been addressed in detail by the Nuffield Council on Bioethics in the 1993 report on genetic screening. In the Council's opinion the individual's desire for confidentiality may be overridden but the decision can only be made case by case. Whilst litigation in the USA has been successful against physicians who have not informed relatives of their genetic risk, there is no precedent for this in UK case law. In current practice, clinical geneticists and counsellors strongly advise the index patient about risks to the wider family and this discussion should be recorded in the patient's notes. At present, there is no legal duty to follow-up other relatives at risk. (Back)

References:

Role of the clinical geneticist - report from the CGS Council to the Joint Committee on Genetic Services (2000)
(available through the chairman Prof P Farndon and BSHG newsletter #15, June 2000.
McAbee GN and Sherman J. Physicians duty to warn third parties about the risk of genetic disease. Pediatrics 102:140-142, (1998).
Nuffield Council on Bioethics - report on genetic screening and ethical issues. Chapter 5 p41-53 (1993).