Medical geneticist in Latviahow to get an appointment and what to bring

A geneticist is a doctor specialising in inherited and congenital genetic conditions. Public sources note that in a genetics clinic patients are seen from the fetal stage through to old age.

Rīga East University Hospital explains that medical genetics is a practical medical specialty that applies knowledge of genes and heredity to diagnose congenital and inherited disease, and provides personalised high-risk surveillance and treatment.

The Children's Clinical University Hospital's service list includes:

• Genetic counselling for patients of all ages and their families
• Prenatal diagnosis of genetic conditions
• First and second trimester biochemical screening in pregnancy
• Postnatal diagnosis of genetic conditions
• Screening for congenital disorders
• Laboratory diagnosis: cytogenetic, biochemical and molecular
• Treatment of genetic conditions

This is the main practical difference from other specialties: patients cannot book themselves.

Public sources state that where a genetic or rare disease is confirmed, care up to age 18 is provided by a paediatrician with competence in rare diseases, who plans the necessary investigations and specialist consultations, including genetics.

Public sources set out specific requirements for a first appointment:

• All doctors' reports, discharge summaries and test results from throughout your life.
• A list of current medicines with exact names.
• A morning urine sample, correctly stored at plus 4 degrees in a refrigerator, in a pharmacy container without preservative, labelled with the collection time and patient details. This does not apply to couples attending for family planning.

For a follow-up appointment, state which geneticist saw you before: in which year, under what surname if it has changed, and the geneticist's name.

Family history is the basic tool of this specialty, so it helps to establish beforehand whether relatives have had similar conditions.

Public sources describe the geneticist taking anthropometric measurements: head circumference, height and weight, and in some cases distances on the face and hands, and arm and leg length.

Depending on symptoms, the doctor may order:

• A full blood count to clarify the composition, number and shape of blood cells
• Biochemical markers
• Cytogenetic, biochemical or molecular genetic testing

Rīga East University Hospital states that it specialises in finding answers in hard-to-diagnose inherited conditions using DNA diagnostics.

The prenatal diagnostics department provides genetic counselling and assessment for pregnant women in higher genetic risk groups.

Public sources list these services:

• Combined screening at 11 to 13+6 weeks, comprising fetal ultrasound and biochemical tests
• Fetal ultrasound at 20 to 22 weeks with detailed assessment of fetal anatomy
• Detailed fetal ultrasound where structural or chromosomal anomalies are present
• Monitoring of intrauterine growth restriction in risk groups after 24 weeks
• Multidisciplinary panels for congenital fetal anomalies, involving a geneticist, paediatric surgeon, paediatric cardiologist, paediatric urologist and others

State-funded prenatal diagnostics require a referral from the family doctor or the gynaecologist with whom the pregnancy is registered, who must hold a National Health Service contract.

The department uses both invasive and non-invasive prenatal diagnostic methods, and its remit includes timely decisions on the further management of the pregnancy.

Public sources explain that 90 per cent of tumours are caused not by changes in genes but by lifestyle and years lived, and that in those cases genetic testing for inherited variants is not needed.

Where an inherited tumour risk is identified, the geneticist prepares the information and decides on further care together with the patient. Public sources describe two routes:

• High-risk surveillance with specialists, with checks once a year.
• Preventive surgery, which is stated to reduce tumour risk by more than 95 per cent.

These decisions are individual and are made together with the doctor.

A medical geneticist is a doctor and therefore subject to practitioners register requirements and Health Inspectorate oversight. Certificates are issued by the Certification Council of the Latvian Medical Association.

If you have doubts about the quality of care, raise them first with the provider's management. If that does not resolve it, a written submission goes to the Health Inspectorate no later than two years after the alleged infringement, and is reviewed within 30 days, extendable to four months in complex cases. The procedure is set out on the Health Inspectorate site.

Genetic information concerns the whole family, so it is worth discussing with the doctor beforehand how results will be stored and who will be able to access them.