As a family physician, GP, paediatrician, or other primary healthcare specialist, you are on the front lines of patient care. You play a critical role in the early identification and long-term management of patients with rare diseases, or with suspected hereditary conditions. Families often look to you to be thoroughly informed about the rare and/or genetic disease with which they have been diagnosed. They may ask questions about genetic disorders or they may want to know whether symptoms they display may have an underlying genetic cause. With our Genetic Services for Healthcare Professionals we are here to help you in your daily work.
Genomic knowledge is growing and ever-changing, and it is crucial for health professionals to determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
Health-related genetic information can have not only important social and psychological implications for individuals and families but may provide healthcare professionals and doctors treatment options and/or screening advice tailored to the individual situation of a patient.
For some patients and families, you may find there are specific clinical questions and/or management issues which are best answered by referral to a specialist genetic service.
We at Schell Genetics are your partners in assisting you in taking the best care of your patients by offering the following Genetic Services for Healthcare Professionals:
- Making or confirming the diagnosis of a genetic condition
- Calculation of the probability of inheriting a condition or of being a carrier
- Explanation of the genetic or inherited basis of the condition, and potential implications for family members
- Discussing and undertaking genetic testing and explaining results
- Giving up-to-date Information about a condition, its management and treatment
We have been offering online genetic consultations mainly for issues related to Paediatric Genetics (Childhood genetic disorders and syndromes), Oncogenetics (Cancer genetics), Reproductive Genetics (Fertility genetics) and Neurogenetics.
Acknowledging that patients are entitled to the available state-of-the art genetic tests and diagnostics, patient care and the needs of the patient are paramount at every step of the genetics consultation services we offer. Our services are designed to assist patients in making informed choices regarding the disease/ disorder in question and, ultimately, their health or the health of their child, respectively, and enabling the referring colleague as well as other healthcare professionals to specific follow-ups and tailored patient care. However, it remains the patient’s decision if and to which extent to take the advice and recommendations given.
Please discuss the option of a referral to our specialist clinical genetics services with your patient and the reason you are recommending this. Please ensure that the patient consents to the referral and is aware of what is likely to follow.
Whom you should refer depends mainly on the clinical question to be answered. Some examples of people for whom a referral might be valuable include:
- A person with a possible or known genetic condition in the family wanting to know if a diagnosis can be made in them or their offspring, and if so, the risks, options and treatment.
- A person with a family history of cancer, wanting to know if they are at increased risk, and if so, what options they have.
- Parents of a child with multiple medical problems and/or learning difficulties, wanting an expert opinion particularly as to whether an underlying diagnosis can be made
- A person with a genetic condition wanting information about the condition and the management / surveillance options available for them.
- A person with a family history of a condition undertaking a genetic test to determine if they have inherited the condition or are a carrier.
- A couple considering pregnancy where there is a genetic condition in the family, requesting information about reproductive options.
- A couple who have had recurrent pregnancy losses or children with multiple anomalies, or fetal anomalies have been revealed in prenatal diagnostics.
- For consanguineous (blood-related) couples, it may make sense to carry out heterozygote screening for carriers of recessive diseases before pregnancy (carrier screening).
- People requiring access to and explanation of complicated genetic tests.
But there may be more conceivable reasons for a referral to our clinical genetics’ services.
Please contact us or make an enquiry if you have any questions or if you want to discuss a particular case.
The referral information we require is similar to that for any specialist referral, (patient identifying details such as date of birth, address, telephone number, of course) but it is helpful to include information about the confirmed or suspected diagnosis or the genetic question being considered. In particular, information about the family history is important to highlight in the referral letter, particularly if any members of the family have been seen by a genetics service.
If you are unsure if a referral is appropriate, please contact us for further advice.
We prefer referrals via email using a secure link: email@example.com. We also accept written referrals by post: Schell Genetics, 395 Cannon Hill Lane, London SW20 9HH.
Following the receipt of the referral, it is likely that your patient will be contacted for further information, particularly about family history. This information will be requested via a questionnaire. In addition, patients are being asked to provide previous clinical reports as well as previous genetic reports.
For most patients, an appointment with the clinical geneticist, Dr Schell-Apacik, is then offered. In the process of preparing for an appointment, we might ask you to provide us with previous medical reports of the patient using a secure link.
Patients are being invited to an online genetic consultation. The length of an initial appointment may vary depending on the exact reason for which the patient is being seen, but usually takes between one and two hours.
The following are likely to be part of a genetic consultation:
- The problem that has brought the patient to the clinic will be discussed in detail.
- A family tree may be drawn, and medical details of relatives may be asked about (such as the cause and age of their death) if not collected before the appointment. It is helpful to suggest to patients you refer that it will be very useful to have found out these details before they attend the appointment, or to ask a relative who will know.
- For certain conditions, photographs may be requested for the medical record.
- The doctor will explain the findings and discuss all the options.
- The patient will be encouraged to ask questions, and to make their own decisions. The geneticist will help with this but will not tell the patient what to decide.
- In some situations, tests (such as blood tests) may be offered. Patients will be given enough time to decide if they want to do genetic blood tests. Results often take several months to come back because of the complexity of the work the laboratory has to do.
- A summary of the clinic appointment, any planned investigations and further management plans is usually sent via an e-mail or a letter to the patient. Copies will be sent to the referring colleague and/ or the GP and/or other relevant healthcare professionals involved, if appropriate.
Schell Genetics is a private clinical genetics service. We have made it our goal to offer patients an appointment as promptly as possible in order to answer their questions as quickly as possible.
Please see also our Practice Guidelines for more detailed information.