Van der Pal-de Bruin et al. (2008) reported on the prevalence of risk factors in preconception counselling of 481 couples in primary care practices. In 42% of these couples, family history required further action by the general practitioner (GP). In 4%, following counselling by the GP, referral to a clinical genetics

centre Inhibitor Library was indicated. In 38% of cases, more information was needed before a decision could be made as to whether referral to a specialist had to be considered. The authors recognize the possibility of bias introduced if the participating couples were a selected group with a higher frequency of reproductive risk factors. Since this may also apply to couples coming for preconception counselling in the future, it is safe to say that a considerable proportion of couples qualifying for preconception care have genetic risk factors in their personal and family history and deserve an adequate response. Challenge and reward The above sad story of Peter S.

is a perfect illustration of the importance of an adequate family history and an appropriate selleck chemicals follow-up of that history. It is possible that history taking by the professionals attending this family was inadequate, leading to the surgery for an eye tumour at a young age in the father to be being missed. It is also possible that they were aware of the eye tumour but failed to identify precisely what had happened or to establish the possible consequences of the precise diagnosis. Taking a family history implies a commitment to follow-up on that history in two directions: what is the precise diagnosis and what are the consequences of that diagnosis for this couple. The levels of competences of primary care professionals

in these matters are probably highly variable, which implies that consulting with a colleague with more expertise on the particular subject or referral is a wise policy. Given the numbers of relevant and significant disorders in the family histories of preconception couples, combined with the numbers for which more information is needed before a decision can be made, genetic risk assessment in preconception consultation is a real challenge. However, the results of this effort can be very rewarding Mirabegron for the couple, their children and other family members, and for the professional involved. Declaration The author declares that he has no conflict of interest. Open Access This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. References American College of Obstetricians and Gynecologists Committee on Genetics (2011) Committee Opinion No. 478: family history as a risk assessment tool.