International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna region, Italy

The aims of this report are to describe the genetic plan for Emilia-Romagna, a region in Italy, and to contribute to the international exchange of information on developing and applying policy frameworks to provide high-quality and comprehensive genetic health care in the publicly funded health systems. At the present time there is no national policy for genetic medicine in Italy, and only two regions, Emilia-Romagna and Liguria, have formally agreed to a strategic plan for health care in genetics. The current provision of genetic services in Emilia-Romagna is described focusing on the intra- and inter-organizational linkages to ensure a comprehensive system of coordinated activities. Strengths and implementation areas are highlighted. Points that must be solved within the regional or national context are the definition of the level of assistance required in genetic medicine, the formal professional recognition of the genetic counselor and the adjustment of the billing mechanisms to the complexities of clinical genetic services. Issues that need to be addressed at a wider level include full assessment of genetic tests before their introduction into clinical practice, networking to provide tests for the rarest genetic diseases, consensus on fundamental terminology and clinical and administrative data sets to promote a cohesive framework for the flow of information throughout the health care systems with respect to genetics.     

Strengthening genetic services in primary care for Asian Americans and Pacific Islanders

The Association of Asian Pacific Community Health Organizations (AAPCHO) is a national membership organization of community health centers (CHCs) that serve medically underserved Asian Americans and Pacific Islanders (AAPIs) with limited English-speaking proficiency and low income. OBJECTIVES: In 1995, AAPCHO was funded for a 3-year national genetics training project to improve genetics training among primary care providers at CHCs and strengthen linkages with tertiary genetic centers (TGCs). Three model linkages between CHCs and TGCs were documented on the coordination of genetic services for medically underserved AAPIs. METHODS: Guidelines were developed for three CHCs to document their genetic programs and linkages with TGCs. In addition, one clinic conducted a mail survey to assess understanding of prenatal genetic counseling sessions by patients that visited the clinic during the past 2 years. RESULTS: Model linkages between CHCs and TGCs to improve cultural and linguistic accessibility for patients include formal coordination between the CHCs and TGCs for the delivery of genetic services and the provision of varying levels of genetic services at the CHC. From the patient survey, there was a 59% response rate among 70 surveys mailed to former patients. The survey results showed that while a majority of patients understood and recalled key genetic concepts, one-fifth of patients experienced difficulty understanding their genetic counseling sessions. CONCLUSION: Based on model linkages between CHCs and TGCs and the patient satisfaction survey results, the following strategies are recommended to improve accessibility of genetic services for medically underserved AAPIs: (1) genetics education should be developed for all levels of health center staff; (2) counseling should be culturally sensitive and focus on key issues that must be conveyed for appropriate informed consent; (3) genetics education should employ the use of translated audiovisual aids and brochures to improve understanding; (4) genetic services should be coordinated between CHCs and TGCs to provide culturally and linguistically competent care for medically underserved AAPIs, and (5) financial mechanisms should be available to support genetic testing of patients and their families with little or no coverage for genetic services.     

Attitudes toward genetic counseling in the United Arab Emirates

AIMS: To assess the level of understanding of genetic advice given in the Genetic Clinic and attitudes toward consanguineous marriages, and prenatal, abortion and preconception diagnoses. METHODS: One hundred couples underwent structured interviews, and various social and educational data, reason for referral and diagnosis and advice given were recorded. Three months later, the couples were asked open-ended questions about the perceived causation of the disease, recurrence risk, plans for births, and prenatal, abortion and preconception diagnoses. RESULTS: Half of the couples acknowledged a genetic basis for their child's condition but only 10 remembered the risk given to them. There was a high correlation between educational level and remembering the risk, and the number of healthy children and future plans for further children. Almost half preferred consanguineous marriages and only 10% agreed with prenatal diagnosis and abortion, while 75% agreed with carrier screening and preconception diagnosis in affected families. CONCLUSION: Effective genetic counseling in this community requires an informed educated population and introduction of carrier screening and preconception diagnosis in affected families.     

Assessment of two 'low-tech' genetic health care procedures performed by prenatal care providers in Washington state: implications for future policy development activities

Equity in health care demands that patients be treated fairly, impartially and with justice. Health care professionals and others have long been aware of the concept of equity, and the many inequities that exist in our health care system. As part of our analysis of postpartum data collected between 1993 and 1996 by the Washington Pregnancy Risk Assessment Monitoring System (PRAMS) from self-administered patient surveys, we explored equity as it pertains to two 'low-tech' prenatal genetic health care procedures: (1) whether or not prenatal care providers asked their patients about a family history of birth defects/genetic disorders, and (2) whether or not prenatal care providers talked to their patients about prenatal testing for birth defects/genetic disorders. Overall, about 80% of pregnant women reported that they had been asked about their family history of birth defects/genetic disorders, and about 85% said that their prenatal care provider(s) had talked to them about prenatal testing. Maternal characteristics associated with a lower likelihood of receiving these two low-tech genetic health care procedures appeared to be young maternal age, and low education and income levels, regardless of where women with these attributes received their prenatal care (e.g. community, migrant, health department or military health care clinics, private physicians, or health maintenance organizations).     

Role of primary care providers in the delivery of genetics services

Fruits of the Human Genome Project are already transforming health care. Primary care providers, regardless of specialty, will need to integrate new genetics knowledge into routine practice in order to fulfill their role in genetics services delivery. Unfortunately, few are prepared for this revolution, and current educational efforts are inadequate. To effect the changes that are needed, we must teach genetics as an integrative discipline at all stages of professional education and emphasize the value of this knowledge to practice.     

Genomics and public health in the United States: signposts on the translation highway

Successful completion of the Human Genome Project has raised public expectations that research findings will translate quickly into health benefits; however, the gap between biomedical research and clinical and public health application seems wider than ever. Public health scientists now have the opportunity to help create a broad concept of research translation that integrates genomic information into policies, programs and services benefiting the whole population. Important 'signposts' along the translation highway include conducting population-based research in genomics, developing evidence on the clinical and public health value of genomic information, and integrating genomics into health practice.     

Medical genetic services in the state of Rio de Janeiro, Brazil

Rio de Janeiro is a state with close to 15 million inhabitants and approximately 250,000 births per year. The state counts nine clinical genetic units in public institutions, providing for 9,400 outpatient consultations yearly, which is insufficient to cover the estimated needs. Laboratory tests such as cytogenetics, inborn errors of metabolism and molecular studies are available on a limited basis. Newborn screening in the public health system is being performed for phenylketonuria, congenital hypothyroidism and sickle cell disease. In the state there are also special treatment programs for osteogenesis imperfecta and Gaucher's disease, subsidized by the Brazilian Ministry of Health. Presently, efforts of medical geneticists are concentrated on highlighting the practical relevance of clinical genetics, and the need to integrate the specialty into the public health system in a functional network of genetic services.     

The role of voluntary consumer organisations in genetic services in the United kingdom

This article describes the role of the Genetic Interest Group (GIG), a UK alliance of charities and voluntary groups for families affected by specific genetic disorders, as an advocate for the needs of patients and their families and as an agent of change in the development of genetic services in the UK. GIG now interacts with a wide range of audiences - lay groups, the professional community, policy makers, government and the media - in a variety of different ways, so that the perspective of the 'end user' is reflected in decisions about the application of the new genetics in the field of human health.     

Policy conflicts: gene patents and health care in Canada

Several recent gene patent controversies have energized and refocused the human gene patent debate in Canada. These include the use of the Myriad test for breast cancer by the provinces, patenting of the Severe Acute Respiratory Syndrome virus and a recent Supreme Court decision rejecting the patenting of 'higher life forms'. These cases place the emerging policy conflicts between the innovation and commercialization agenda of the government and the desire to provide equitable access to health care in sharp focus. Another challenge faced by Canada is the powerful influence of the United States in policy decisions. Although these issues have raised awareness about the possibility of reforming the patent system, Parliament has yet to consider any of the suggested reforms of the Canadian patent system and there are no formal proposals pending.