What is the genetics field?
Medical Genetics is that branch of medicine concerned with the effects of genetic variations in human development and health as well as the study, diagnosis, management, and prevention of genetics related disorders in individuals, families and communities.
What is genetic counseling?
Genetic Counselors and Medical Geneticists are those who:
Provide information and support when a family member has been diagnosed with a condition that may have a genetic component.
Explain the diagnosis to you.
Let you know if other family members are at risk.
Arrange tests if required.
Offer insight into dealing with the difficulties some families may have following the diagnosis of a genetic condition.
Review available screening and treatment options with you.
Refer you to other medical specialists that can help in providing health care services for you and your family.
Where are the genetics clinics held?
Genetics clinics are held regularly in clinic number 204, the 2nd floor at the outpatient tower in King Abdulaziz Medical City - Riyadh.
What do I need to prepare for a genetics appointment?
Before you go to your first appointment, gather as much information as possible about your medical history, pregnancy history, family history, and genetic concerns. A genetic counselor may contact you to get the information before your appointment, or will obtain the information from you during your first appointment.
How do I obtain my family history?
Many personal traits are inherited. These traits include risks for certain genetic conditions and health problems. It is important for you to learn as much about your family health history as possible. By looking at your family history, we can help predicting your health problems or your children who may be at an increased risk in the future, and we may also help you in reducing some of these health risks.
We will be asking you health-related questions about your parents, grandparents, siblings, nieces, nephews, aunts, uncles, and cousins. For relatives who have passed away, we will ask if you know the cause of death. It might be helpful to contact one or more family members prior to your appointment, to obtain as much information as possible. Bare in mind that some family members may be more reluctant than others in sharing their personal medical history, just try to be more respectful when approaching them. Everyone deals with their health in different ways. Do not worry if you are unable to obtain family health history from one or both sides of your family; we will provide you with a counseling based on the available information.
Where will the information about my family go?
The information you provide will be handled as confidential information and will be stored in your medical chart in King Abdulaziz Medical City. This family history will not be shared without your permission and consent.
What about my privacy?
We will not share any of your information or test results without your permission consent, a signed medical form is required prior to releasing any of your medical records.
How will Medical Genetics help me?
A genetic evaluation can indicate the best way to proceed with the testing to confirm a specific diagnosis and a diagnosis allows for a more accurate estimation of the probability that a certain genetic condition will again occur in the family. Furthermore, genetic services can help you share this type of information with your family members.
Genetic Counselors can also provide resources that can help your family in dealing with both the medical and the psychological implications of family diseases as well as helping you in preventing the recurrence of such cases in future pregnancies through preimplantation genetics diagnosis (PGD) and Prenatal genetics testing.
What can I expect in my visit to a Medical Geneticist?
Appointments normally last between one and half to two hours, your visit will begin by meeting with a Genetic Counselor or a Geneticist (MD), who will review your health or your child’s health, family’s developmental, psychological, and social history. If it is required, a Geneticist will do a physical exam as well. Following that, either the MD or the Genetic Counselor may provide genetic counseling. Genetic Counseling may include:
Review the findings, possible diagnosis and implications, as well as plans for follow-ups.
A discussion about testing and exploring options including risks, benefits, medical impacts, personal and social consequences, and possible discrimination.
Offer support for you and your family to make decisions based on your goals, ethics, and beliefs.
A targeted analysis, including cytogenetics, molecular and metabolic investigations.
Educational counseling about the diagnosis.
Discussion sessions with you about how heredity influences diseases and the risks of recurrence of those disease.
Referral to appropriate specialists.
Identification of community resources and support information for you and your family.
Information about teratogens and birth defects, with and without a genetic basis.
Follow up with other family members when appropriate.
Will you give my family members or me a specific diagnosis?
All of your doctors will make every attempt to provide you with a diagnosis or to use tests to confirm a previously established diagnosis. However, please remember that occasionally, we will not be able to provide a specific diagnosis or to offer testing for specific diseases. Genetics is a rapidly advancing field and there is still much to discover.
Do I have to be tested? Will Genetic services tell me what to do?
The decision whether to have a genetic testing or not is personal. No one will tell you what you should do. Genetic services are available to explore the pros and cons of each test so that you can decide whether or not testing is an option for you and your family.
What information will I receive at the appointment?
We attempt to provide written resources about specific diseases to all of our patients. Many genetic conditions are very rare, so unfortunately, this is not always possible. Please feel free to ask for a medical report or for a family letter for you to share with other family members.