Patients Frequently Asked Questions
1. What do you do at the clinic?
Millions of people are living with a disease that impacts their lives every day, but for which they have no diagnosis and no explanation The Smith Family Clinic was established to help find those answers. The first step in finding a cure, is finding out what’s wrong. We use a relatively new test called whole genome sequencing to seek those answers for our patients.
2. What is whole genome sequencing?
Whole genome sequencing (we also call it WGS) is the best test first. From a blood sample, we can read your entire DNA sequence. Think of it as a “human blueprint.” Our clinic searches that blueprint to find out what’s causing disease. For more information about genome sequencing, click here.
3. How much does this cost?
We fully believe that in the near future, insurers will recognize the value of WGS and will start providing more coverage for patients. We will submit letters to our patients’ insurance companies to ask for coverage. We also will provide you with a copy of your bill for submission to your insurance company.
Our clinic administrator will discuss costs with you when you schedule a visit. We do our best to help all patients. The HudsonAlpha Foundation founded the Hero Fund to provide genomic sequencing for patients who cannot afford it.
If whole genome sequencing is ultimately recommended, it’s important to note that most health plans do not currently cover whole genome sequencing.
4. How long does it take?
The first step is calling to clinic to set up an initial visit. In advance of that visit, you’ll get medical records sent to the clinic and also will be given access to Genome Gateway.
If WGS is the right test for you, the process of evaluating your data for a diagnosis takes about three months. You will then return to the clinic to get results.
5. What might I learn from whole genome sequencing?
It is possible that whole genome sequencing could identify an underlying genetic cause for the health problem for which you or your family member seeks a diagnosis. There is also a small chance that this test could reveal additional information about your risks for other medical conditions. Also, you might learn that some of the medications you take aren’t effective– or those other medications could be better.
6. Will you be able to diagnose me?
Doctors and scientists are getting better at this every day! Based on our experience so far, the success rate for whole genome sequencing is around 30%. That number is only expected to increase as we learn more about the human genome, or “blueprint” and what changes to that blueprint mean for your health.
7. Will you be able to cure my disease?
The first step in being able to treat a disease is knowing the exact cause of disease. For some genetic conditions, knowing the underlying cause will lead to a change in medications or other treatments, and improve the quality of life. Sometimes—although rarely—the diagnosis will lead to a cure or a treatment that reverses the symptoms of a disease.
Even if there is no cure, this information is incredibly meaningful for patients. Getting an answer means you can stop searching for that answer. Knowing the cause of disease, in some cases, provides peace of mind about other family members. It can help families make future reproductive decisions. Our patients — and we– believe a diagnosis is incredibly valuable.
8. What can I do with this information?
If a diagnosis is made through whole genome sequencing, this information may be used to inform medical decision making and may direct management. In addition, this information may provide knowledge about risks to other family members to carry or be affected with the same condition.
If no diagnosis is made, that doesn’t mean an end to the process. If patients wish, their genome can be re-evaluated at regular intervals to see if new scientific findings correlate to their unique DNA changes. We have re-evaluated a human genome a year after sequencing with no results and made positive diagnoses.
9. Is there any risk to having whole genome sequencing?
In the process of having your genome sequenced, you may learn about other changes, or variants, that are linked to different diseases that you don’t currently have. In some cases, the genetic change signals that you may be at higher risk for developing a specific disease later in life. Or it may be that you are a carrier for a disease that you don’t have, but could pass to children.
Some people respond better than others to this type of uncertainty, so it’s important that we provide genetic counseling to make sure families understand the information.
Additionally, the Genetic Information Nondiscrimination Act of 2008 (GINA) protects individuals from having their genetic information used against them when obtaining employment or health insurance. Protected genetic information includes family history, participation in genetic testing or counseling, and specific genetic test results. However, this protection does not apply to other types of insurance, including life insurance and long-term care policies. For more information: https://www.genome.gov/10002328
10. Who has access to my information?
If you become a patient, all information that you and your physicians provide will become a part of your medical record, to findwhich will be protected by law and kept confidential. Click here to view our Notice of Privacy Practices.
11. Who will I see?
Our team includes a clinical geneticist, genetic counselors, and a clinic operations administrator. Please see The Clinic Team to find out more about these individuals.
12. Do I need a physician referral?
You may contact our clinic operations administrator by calling 256.327.9640 or emailing firstname.lastname@example.org to learn more about the process of becoming a patient. Your physician can refer you by fax 256.327.0976 or through our website at Start Finding Answers.
13. What is the Genome Gateway? And where do I login?
The gateway is an electronic system that allows patients to complete paperwork, answer questions regarding their medical and family history, receive education about genetics topics, and communicate directly with our clinic team.
The gateway login is at the top right of the clinic website or click here for patient login.
14. Does being seen in the Clinic for Genomic Medicine mean I have to undergo genetic testing?
15. What are the limits of whole genome sequencing?
There are a wide variety of changes in a genome that can cause rare genetic disorders. These changes, called pathogenic variants, come in many forms. One of the most common types of a pathogenic variant is called a single nucleotide substitution. Whole genome sequencing has proven to be very effective at detecting this sort of change.
There are several kinds of genomic changes that may not be accurately assessed by whole genome sequencing at the present time. Notable among these are trinucleotide repeat diseases. A trinucleotide is a sequence of 3 nucleotides (bases). Whole genome sequencing has difficulty “counting” the number of repeats.
Another group of variants that may not be accurately assessed by whole genome sequencing are variants where part of the genome is lost, gained, or rearranged. The simplest type is called a deletion. Whole genome sequencing can assess small deletions; however, some of the larger ones may not be accurately assessed.
An additional challenge for whole genome sequencing involves using the data that results from sequencing. There are regions of the genome that are so similar to one another that the computer program used to construct a map of the genome is not able to tell them apart. In contrast, some regions of our genome are so different from person to person that computer has trouble creating a picture of that region of the genome.
There are a number of genetic tests on the market that patients and consumers may initiate for themselves. These tests offer individuals the ability to obtain genetic information without necessarily visiting their medical provider’s office. Such consumer-initiated tests explore a small subset of a person’s total genome sequence and only provide information about limited numbers of traits and/or medical conditions.
16. What is the difference from self-initiated genetic tests?
Whole genome sequencing sequences all 6 billion letters of an individual’s DNA. This allows the information to be used to find out about a much larger variety of traits and medical conditions. Furthermore, the same sequencing data can be re-examined at any time in the future as genomic knowledge increases. Because of the much broader applications of whole genome sequencing, a physician is required to initiate the test as well as help manage the results and implications. In addition, the enormous amount of genetic data that is generated causes whole genome sequencing to be more expensive compared to consumer-initiated genetic tests.